A total 1399 pathogenic variants reported in gene collagen type II alpha 1 chain (COL2A1)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser) SNV
Germline		 Chr12:47977373 Pathogenic Hypochondrogenesis No Assertion Criteria Provided
 CA250663 rs_121912864

1 SubmittersRCV000018895
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys) SNV
Germline		 Chr12:47982886 Pathogenic Namaqualand hip dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127154 rs_121912865

5 SubmittersRCV000018896RCV001390123
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) SNV
Germline		 Chr12:47978698 Pathogenic Stickler syndrome type 1
Condition: not provided
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281739 rs_121912866

6 SubmittersRCV000018899RCV000726311RCV006439577
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser) SNV
Germline		 Chr12:47982142 Pathogenic Hypochondrogenesis No Assertion Criteria Provided
 CA250666 rs_121912867

1 SubmittersRCV000018901
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu) SNV
Germline		 Chr12:47977607 Pathogenic Hypochondrogenesis No Assertion Criteria Provided
 CA250668 rs_121912868

1 SubmittersRCV000018903
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) SNV
Germline		 Chr12:47995904 Pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281742 rs_121912869

3 SubmittersRCV000018904RCV000579130
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) SNV
Germline		 Chr12:47975971 Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia congenita
Condition: not provided
Spondyloepimetaphyseal dysplasia, Strudwick type
Stickler syndrome type 1
Namaqualand hip dysplasia
Connective tissue disorder
Type 2 collagenopathy
COL2A1-related disorder
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA250671 rs_121912870

14 SubmittersRCV000018905RCV000484896RCV001729352RCV002247358RCV002272023RCV002276564RCV003320353RCV005867784RCV005318312
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) SNV
Germline		 Chr12:47989769 Pathogenic/Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type No Assertion Criteria Provided
 CA250673 rs_121912871

2 SubmittersRCV002280862
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) SNV
Germline		 Chr12:47994440 Pathogenic Stickler syndrome, type I, nonsyndromic ocular
Condition: not provided		 Criteria Provided
Single Submitter
 CA127156 rs_121912872

2 SubmittersRCV000018908RCV006461178
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV
Germline		 Chr12:47978329 Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia congenita
Condition: not provided
14 conditions
Spondyloperipheral dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA250676 rs_121912874

14 SubmittersRCV000018910RCV000478360RCV000762895RCV000995718
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) SNV
Germline		 Chr12:47979519 Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type No Assertion Criteria Provided
 CA250678 rs_121912875

1 SubmittersRCV002509163
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) SNV
Germline		 Chr12:47994041 Pathogenic Spondyloepiphyseal dysplasia with metatarsal shortening
Stickler syndrome type 1
Condition: not provided
Achondrogenesis type II
Acetabular dysplasia
COL2A1-related skeletal disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127158 rs_121912876

10 SubmittersRCV000018912RCV000988828RCV001385337RCV003323361RCV003228897RCV006688360
NM_001844.5(COL2A1):c.1420-2A>G SNV
Germline		 Chr12:47986445 Pathogenic Kniest dysplasia
Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384552989 rs_794727377

3 SubmittersRCV000018913RCV002247359RCV002513112
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) SNV
Germline		 Chr12:47993825 Pathogenic Kniest dysplasia
Condition: not provided
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127160 rs_121912877

4 SubmittersRCV000018914RCV000724305RCV006436389
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser) SNV
Germline		 Chr12:47978389 Pathogenic Achondrogenesis type II No Assertion Criteria Provided
 CA250680 rs_121912878

1 SubmittersRCV000018915
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg) SNV
Germline		 Chr12:47980017 Pathogenic Achondrogenesis type II No Assertion Criteria Provided
 CA250699 rs_121912879

1 SubmittersRCV000022480
NM_001844.5(COL2A1):c.1222-2A>G SNV
Germline		 Chr12:47987315 Pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384554296 rs_2136577259

3 SubmittersRCV000018917RCV002513113
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) SNV
Germline		 Chr12:47986353 Conflicting classifications of pathogenicity Condition: not provided
Spondyloepimetaphyseal dysplasia, Strudwick type
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA250682 rs_121912880

3 SubmittersRCV000380315RCV002509164RCV005859469
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val) SNV
Germline		 Chr12:47986388 Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type No Assertion Criteria Provided
 CA250684 rs_121912881

1 SubmittersRCV002509165
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) SNV
Germline		 Chr12:47979534 Pathogenic Multiple epiphyseal dysplasia, Beighton type
Myopia
Condition: not provided
Stickler syndrome type 1
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127163 rs_121912882

12 SubmittersRCV000018922RCV000414959RCV000513905RCV004595885RCV006738136
NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg) SNV
Germline		 Chr12:47976043 Pathogenic Spondyloepiphyseal dysplasia congenita No Assertion Criteria Provided
 CA250686 rs_121912883

1 SubmittersRCV000018924
NM_001844.5(COL2A1):c.1680+1G>A SNV
Germline		 Chr12:47985727 Pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA384551312 rs_1057524696

2 SubmittersRCV000018925RCV001851925
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) SNV
Germline		 Chr12:47985575 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided
Achondrogenesis type II
Retinal dystrophy
Stickler syndrome, type I, nonsyndromic ocular
COL2A1-related disorder
Stickler syndrome
15 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA281746 rs_121912884

15 SubmittersRCV000018926RCV000413561RCV001197973RCV001074673RCV001807733RCV004528123RCV006277651RCV006261722
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) SNV
Germline		 Chr12:47983435 Pathogenic Stickler syndrome, type I, nonsyndromic ocular
Stickler syndrome type 1		 No Assertion Criteria Provided
 CA127165 rs_121912885

2 SubmittersRCV000018927RCV000144727
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) SNV
Germline		 Chr12:47974090 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia congenita
Spondyloperipheral dysplasia
Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA204551 rs_121912886

6 SubmittersRCV000018928RCV000190574RCV001299254RCV004734525
NM_001844.5(COL2A1):c.3914G>A (p.Gly1305Asp) SNV
Germline		 Chr12:47974835 Pathogenic Vitreoretinopathy with phalangeal epiphyseal dysplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA127167 rs_121912887

2 SubmittersRCV000018930RCV005089278
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp) SNV
Germline		 Chr12:47985946 Pathogenic Achondrogenesis type II No Assertion Criteria Provided
 CA250701 rs_121912888

1 SubmittersRCV000022481
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) SNV
Germline		 Chr12:47974234 Likely pathogenic Platyspondylic dysplasia, Torrance type
Spondyloperipheral dysplasia
Condition: not provided		 Criteria Provided
Single Submitter
 CA127170 rs_121912889

2 SubmittersRCV000018931RCV000022482RCV001377068
NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter) SNV
Germline		 Chr12:47974092 Pathogenic Spondyloperipheral dysplasia No Assertion Criteria Provided
 CA127171 rs_121912890

1 SubmittersRCV000018934
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser) SNV
Germline		 Chr12:47976052 Pathogenic Avascular necrosis of femoral head, primary, 1
Legg-Calve-Perthes disease
Condition: not provided
15 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127173 rs_121912891

4 SubmittersRCV000018935RCV000018936RCV001382419RCV005007871
NM_001844.5(COL2A1):c.2149G>A (p.Gly717Ser) SNV
Germline		 Chr12:47982892 Pathogenic Avascular necrosis of femoral head, primary, 1 No Assertion Criteria Provided
 CA127174 rs_387906558

1 SubmittersRCV000018937
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV
Germline		 Chr12:47983721 Pathogenic Stickler syndrome type 1
Autosomal dominant rhegmatogenous retinal detachment
Condition: not provided
14 conditions
Stickler syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127176 rs_121912893

9 SubmittersRCV000018938RCV000018939RCV000481275RCV000762896RCV004689424RCV004975261
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) SNV
Germline		 Chr12:47993475 Likely pathogenic Autosomal dominant rhegmatogenous retinal detachment
Condition: not provided		 Criteria Provided
Single Submitter
 CA127179 rs_121912894

2 SubmittersRCV000018940RCV001851926
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) SNV
Germline		 Chr12:47978320 Pathogenic Condition: not provided
Spondyloepimetaphyseal dysplasia, Strudwick type		 Criteria Provided
Single Submitter
 CA250688 rs_121912895

2 SubmittersRCV001851927RCV002509166
NM_001844.5(COL2A1):c.709-2A>G SNV
Germline		 Chr12:47995310 Pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA384523481 rs_1592232116

2 SubmittersRCV000018942RCV005647965
NM_001844.5(COL2A1):c.3886+2T>C SNV
Germline		 Chr12:47975315 Pathogenic Stickler syndrome, type I, nonsyndromic ocular No Assertion Criteria Provided
 CA384536253 rs_1592196064

1 SubmittersRCV000018943
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) SNV
Germline		 Chr12:48000070 Pathogenic Stickler syndrome, type I, nonsyndromic ocular No Assertion Criteria Provided
 CA127181 rs_121912896

1 SubmittersRCV000018944
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) SNV
Germline		 Chr12:48000019 Pathogenic Stickler syndrome, type I, nonsyndromic ocular
Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127183 rs_121912897

8 SubmittersRCV000018945RCV000657640RCV002470714RCV004532390RCV006277652
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) SNV
Germline		 Chr12:48000041 Pathogenic Stickler syndrome, type I, nonsyndromic ocular No Assertion Criteria Provided
 CA127185 rs_121912898

1 SubmittersRCV000018946
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val) SNV
Unknown		 Chr12:47985771 Pathogenic Achondrogenesis type II No Assertion Criteria Provided
 CA250704 rs_121912899

1 SubmittersRCV000022483
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) SNV
Germline		 Chr12:47974258 Conflicting classifications of pathogenicity Avascular necrosis of femoral head, primary, 1
Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA128528 rs_138498898

6 SubmittersRCV000022484RCV000523016RCV004532397
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) SNV
Germline		 Chr12:47974685 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
Inborn genetic diseases
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA221742 rs_201646745

5 SubmittersRCV000079727RCV000283561RCV003242977RCV006456686
NM_001844.5(COL2A1):c.85+1G>C SNV
Germline		 Chr12:48004236 Pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA233806 rs_727503882

4 SubmittersRCV000173262RCV006704575
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val) SNV
Germline		 Chr12:47977363 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA235882 rs_786205477

2 SubmittersRCV000171212
NM_001844.5(COL2A1):c.762+1G>A SNV
Germline		 Chr12:47995254 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA302720 rs_794727026

2 SubmittersRCV000174056
NM_001844.5(COL2A1):c.870+5G>A SNV
Germline		 Chr12:47993989 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA240060 rs_794727095

6 SubmittersRCV000174511RCV004537369RCV006699223
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) SNV
Germline		 Chr12:47989235 Conflicting classifications of pathogenicity Condition: not provided
15 conditions		 Criteria Provided
Conflicting Classifications
 CA241017 rs_794727202

4 SubmittersRCV000259706RCV004796067
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV
Germline		 Chr12:47999953 Pathogenic Condition: not provided
14 conditions
15 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA302808 rs_794727261

4 SubmittersRCV000255165RCV000762897RCV005008098
NM_001844.5(COL2A1):c.1358G>C (p.Gly453Ala) SNV
Germline		 Chr12:47987085 Pathogenic/Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251239 rs_794727339

2 SubmittersRCV000176186RCV006704603
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) SNV
Germline		 Chr12:47986353 Pathogenic Condition: not provided
Inborn genetic diseases
Spondyloperipheral dysplasia
15 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251240 rs_121912880

12 SubmittersRCV000176384RCV000622876RCV000985160RCV005008103
NM_001844.5(COL2A1):c.1420-2A>C SNV
Germline		 Chr12:47986445 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA201921 rs_794727377

1 SubmittersRCV000176387
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) SNV
Germline		 Chr12:47986430 Conflicting classifications of pathogenicity not specified
Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA248795 rs_201823490

8 SubmittersRCV000176388RCV000962471RCV002277373
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val) SNV
Germline		 Chr12:47985029 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA202082 rs_794727438

1 SubmittersRCV000176730
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg) SNV
Germline		 Chr12:47984572 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA302911 rs_794727462

4 SubmittersRCV000176855
NM_001844.5(COL2A1):c.1924G>T (p.Gly642Ter) SNV
Germline		 Chr12:47984104 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA202174 rs_794727472

1 SubmittersRCV000176926
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) SNV
Germline		 Chr12:47983716 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
Stickler syndrome
15 conditions		 Criteria Provided
Conflicting Classifications
 CA243640 rs_794727533

6 SubmittersRCV000177457RCV004734793RCV006436689RCV006261740
NM_001844.5(COL2A1):c.2015G>C (p.Gly672Ala) SNV
Germline		 Chr12:47983419 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA243743 rs_794727546

1 SubmittersRCV000290485
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) SNV
Germline		 Chr12:47982517 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA244668 rs_371835359

3 SubmittersRCV000177768RCV000382831RCV006456785
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys) SNV
Germline		 Chr12:47981378 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA302964 rs_794727596

2 SubmittersRCV000177904
NM_001844.5(COL2A1):c.2530C>T (p.Gln844Ter) SNV
Germline		 Chr12:47980649 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA302968 rs_794727607

2 SubmittersRCV000177979
NM_001844.5(COL2A1):c.2680-9C>T SNV
Germline		 Chr12:47979573 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder
not specified
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA245565 rs_369022247

6 SubmittersRCV000723611RCV001110028RCV004537465RCV006701218RCV006456787
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) SNV
Germline		 Chr12:47978015 Pathogenic Condition: not provided
Stickler syndrome type 1
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA303000 rs_748459670

8 SubmittersRCV000479858RCV000988819RCV006439709
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp) SNV
Germline		 Chr12:47977154 Pathogenic/Likely pathogenic Condition: not provided
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, Schmidt type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA251242 rs_794727684

4 SubmittersRCV000178624RCV005864460RCV005055085
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) SNV
Germline		 Chr12:47973457 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA246379 rs_763352763

3 SubmittersRCV000179142
NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg) SNV
Germline		 Chr12:47977128 Pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA339749 rs_864621973

1 SubmittersRCV000205306
NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg) SNV
Germline		 Chr12:47995910 Pathogenic Spondyloepiphyseal dysplasia, Stanescu type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357206 rs_869312907

3 SubmittersRCV000210454RCV001385339
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) SNV
Germline		 Chr12:47980605 Conflicting classifications of pathogenicity not specified
Connective tissue disorder
Condition: not provided
Stickler syndrome type 1
Melanoma
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535052 rs_141423593

12 SubmittersRCV000239357RCV000659400RCV000959727RCV001110809RCV005891009RCV006456888
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) SNV
Germline		 Chr12:47974311 Conflicting classifications of pathogenicity not specified
Connective tissue disorder
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534538 rs_367625071

6 SubmittersRCV000252185RCV000680490RCV000724913RCV004609335
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) SNV
Germline		 Chr12:47978345 Conflicting classifications of pathogenicity not specified
Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534943 rs_201719788

6 SubmittersRCV000249904RCV000918676RCV001114065RCV006456901
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) SNV
Germline		 Chr12:47985759 Conflicting classifications of pathogenicity not specified
Condition: not provided
Stickler syndrome type 1
Orofacial cleft 1		 Criteria Provided
Conflicting Classifications
 CA6535432 rs_186233557

9 SubmittersRCV000254258RCV000894899RCV000988827RCV003320624
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) SNV
Germline		 Chr12:47978659 Pathogenic Condition: not provided
Spondylometaphyseal dysplasia - Sutcliffe type
Type 2 collagenopathy
not specified
8 conditions
Autosomal dominant COL2A1-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588549 rs_886039542

8 SubmittersRCV000254943RCV001194467RCV002272197RCV002248493RCV005429009RCV006695588
NM_001844.5(COL2A1):c.2609G>T (p.Gly870Val) SNV
Germline		 Chr12:47980570 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10603147 rs_886041429

1 SubmittersRCV000379858
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) SNV
Germline		 Chr12:47980643 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA10603151 rs_886042043

2 SubmittersRCV000293167
NM_001844.5(COL2A1):c.1816G>C (p.Gly606Arg) SNV
Germline		 Chr12:47985012 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10603157 rs_886041945

1 SubmittersRCV000317249
NM_001844.5(COL2A1):c.1996-1G>A SNV
Germline		 Chr12:47983439 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10603191 rs_886041935

1 SubmittersRCV000337191
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter) SNV
Germline		 Chr12:47996613 Pathogenic Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603196 rs_886041843

3 SubmittersRCV000405387RCV005863080
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp) SNV
Germline		 Chr12:47978667 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA10603256 rs_886041914

2 SubmittersRCV000285557
NM_001844.5(COL2A1):c.2618G>A (p.Gly873Glu) SNV
Germline		 Chr12:47980561 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10603260 rs_886042009

1 SubmittersRCV000271693
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) SNV
Germline		 Chr12:47980562 Pathogenic Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603262 rs_886041713

2 SubmittersRCV000335506RCV002248504
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) SNV
Germline		 Chr12:47985947 Pathogenic/Likely pathogenic Condition: not provided
See cases
Spondyloepiphyseal dysplasia, Stanescu type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603265 rs_886041895

5 SubmittersRCV000274274RCV003155144RCV005252853
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) SNV
Germline		 Chr12:47974788 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6534590 rs_748248022

2 SubmittersRCV000345266RCV001855082
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) SNV
Germline		 Chr12:47989761 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535628 rs_147202936

4 SubmittersRCV000287149RCV004542989
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His) SNV
Germline		 Chr12:47975361 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534629 rs_763097721

3 SubmittersRCV000366271
NM_001844.5(COL2A1):c.3382G>C (p.Gly1128Arg) SNV
Germline		 Chr12:47976865 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10604474 rs_886042612

1 SubmittersRCV000292504
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter) SNV
Germline		 Chr12:47975986 Pathogenic Condition: not provided
Spondyloepiphyseal dysplasia congenita
COL2A1-related disorder
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10604522 rs_886042651

7 SubmittersRCV000357221RCV001849362RCV004734925RCV005869209
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg) SNV
Germline		 Chr12:47985551 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10604628 rs_886042741

1 SubmittersRCV000334874
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) SNV
Germline		 Chr12:48000016 Conflicting classifications of pathogenicity Connective tissue disorder
Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder
not specified
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6536076 rs_202210896

9 SubmittersRCV000659384RCV000725382RCV001114415RCV004535312RCV005238832RCV006456928
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val) SNV
Germline		 Chr12:47980579 Pathogenic/Likely pathogenic Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10604765 rs_886042849

2 SubmittersRCV000393415RCV001787094
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) SNV
Germline		 Chr12:47985774 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535435 rs_145042175

7 SubmittersRCV000322902RCV000373035RCV006456933
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) SNV
Germline		 Chr12:47977118 Pathogenic/Likely pathogenic Condition: not provided
Stickler syndrome type 1
Spondyloperipheral dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10605424 rs_886043356

3 SubmittersRCV000377732RCV000988818RCV003152704
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter) SNV
Germline		 Chr12:47982109 Pathogenic Condition: not provided
Stickler syndrome type 1
Stickler syndrome, type I, nonsyndromic ocular
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10605488 rs_886043410

6 SubmittersRCV000579307RCV003380537RCV004796151
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg) SNV
Germline		 Chr12:47978704 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10605635 rs_886043540

1 SubmittersRCV000312846
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) SNV
Germline		 Chr12:47987103 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA10605662 rs_886043561

2 SubmittersRCV000284452
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=) SNV
Germline		 Chr12:47985085 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535383 rs_755517458

4 SubmittersRCV000349535RCV004535387
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg) SNV
Germline		 Chr12:47985057 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10605853 rs_886043712

1 SubmittersRCV000271173
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) SNV
Germline		 Chr12:47975417 Conflicting classifications of pathogenicity Stickler syndrome type 1
Connective tissue disorder
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534642 rs_139114389

7 SubmittersRCV000313638RCV000659407RCV000726063RCV004535396RCV006456945
NM_001844.5(COL2A1):c.1023+1G>A SNV
Germline		 Chr12:47992877 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA10605953 rs_886043794

3 SubmittersRCV000393700
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) SNV
Germline		 Chr12:47985772 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Achondrogenesis type II		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10606903 rs_886044555

6 SubmittersRCV000489443RCV000622408RCV003987496
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) SNV
Germline		 Chr12:47974156 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534514 rs_537186508

3 SubmittersRCV000354121RCV001582948RCV006457000
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) SNV
Germline		 Chr12:47976066 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534720 rs_374156023

2 SubmittersRCV000266329RCV001850630RCV006458202
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) SNV
Germline		 Chr12:47978673 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Stickler syndrome, type I, nonsyndromic ocular
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534977 rs_533540496

3 SubmittersRCV000289195RCV002056296RCV004549667RCV006458207
NM_001844.5(COL2A1):c.1680+9C>A SNV
Germline		 Chr12:47985719 Conflicting classifications of pathogenicity Stickler syndrome type 1
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535425 rs_371857655

2 SubmittersRCV000379960RCV004544529RCV006458214
NM_001844.5(COL2A1):c.1680+8G>T SNV
Germline		 Chr12:47985720 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535426 rs_754310324

3 SubmittersRCV000376050RCV005639012RCV004544530RCV006458215
NM_001844.5(COL2A1):c.85+10C>G SNV
Germline		 Chr12:48004227 Conflicting classifications of pathogenicity Stickler syndrome type 1
not specified
Connective tissue disorder
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6536118 rs_769941617

7 SubmittersRCV000285542RCV000611318RCV000680498RCV000919210RCV006458228
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) SNV
Germline		 Chr12:47973496 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534469 rs_148838496

3 SubmittersRCV000312017RCV001235510RCV006456998
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) SNV
Germline		 Chr12:47974142 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534511 rs_754466377

2 SubmittersRCV000396722RCV001344740RCV006456999
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) SNV
Germline		 Chr12:47975467 Conflicting classifications of pathogenicity Stickler syndrome type 1
not specified
Connective tissue disorder
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534653 rs_147569641

9 SubmittersRCV000397377RCV000438916RCV000680493RCV000893653RCV006458199
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) SNV
Germline		 Chr12:47982522 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535166 rs_751436440

4 SubmittersRCV000343300RCV002262963RCV006458210
NM_001844.5(COL2A1):c.1366-13C>A SNV
Germline		 Chr12:47986901 Conflicting classifications of pathogenicity Stickler syndrome type 1
Connective tissue disorder
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535495 rs_200984998

5 SubmittersRCV000269517RCV000659392RCV001398631RCV006458218
NM_001844.5(COL2A1):c.1077C>G (p.Val359=) SNV
Germline		 Chr12:47989273 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
not specified
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535612 rs_202002349

3 SubmittersRCV000265928RCV002056298RCV005407037RCV006458219
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV
Germline		 Chr12:47994437 Conflicting classifications of pathogenicity Stickler syndrome type 1
14 conditions
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535779 rs_142770543

6 SubmittersRCV000351659RCV000763850RCV000976095RCV004537733RCV006458222
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) SNV
Germline		 Chr12:47978074 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Mendelian syndromes with cleft lip/palate
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534909 rs_146046296

5 SubmittersRCV000387243RCV001403750RCV003314586RCV004544528RCV006458206
NM_001844.5(COL2A1):c.2410-11C>T SNV
Germline		 Chr12:47981407 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA10641337 rs_886049447

2 SubmittersRCV000356094RCV001469152RCV006458209
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) SNV
Germline		 Chr12:47984090 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535323 rs_368641858

2 SubmittersRCV000273727RCV002056297RCV006458213
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) SNV
Germline		 Chr12:47985749 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535431 rs_756360655

2 SubmittersRCV000282098RCV003765810RCV006458216
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) SNV
Germline		 Chr12:47986365 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535468 rs_768110640

3 SubmittersRCV000312447RCV001764277RCV006458217
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser) SNV
Germline		 Chr12:47992897 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535669 rs_755043901

3 SubmittersRCV001753770RCV004734972
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) SNV
Germline		 Chr12:47999965 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6536069 rs_142161948

6 SubmittersRCV000383362RCV000757109RCV004544531RCV006458227
NM_001844.5(COL2A1):c.*305G>A SNV
Germline		 Chr12:47973102 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA10642340 rs_532700241

2 SubmittersRCV000309876RCV003391102RCV006456990
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) SNV
Germline		 Chr12:47974289 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534531 rs_778382364

2 SubmittersRCV000357617RCV001850629RCV006458197
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr) SNV
Germline		 Chr12:47975544 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA10642342 rs_886049445

2 SubmittersRCV000310097RCV005055861RCV006458200
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg) SNV
Unknown		 Chr12:47976531 Likely pathogenic Disproportionate short-limb short stature
Narrow chest
Achondrogenesis type II		 Criteria Provided
Single Submitter
 CA16043470 rs_1057518911

1 SubmittersRCV000415337RCV001196300
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val) SNV
Germline		 Chr12:47978098 Pathogenic Short ribs
Absent vertebral body mineralization
Achondrogenesis type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043471 rs_765795867

2 SubmittersRCV000415214RCV001196261RCV002524665
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) SNV
Germline		 Chr12:47984112 Likely pathogenic 6 conditions
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043472 rs_1057518908

2 SubmittersRCV000415092RCV003144254
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=) SNV
Germline		 Chr12:47978348 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534945 rs_555904044

2 SubmittersRCV000416084
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr) SNV
Germline		 Chr12:47975548 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA16606542 rs_760093841

2 SubmittersRCV000429122
NM_001844.5(COL2A1):c.1680+1G>C SNV
Germline		 Chr12:47985727 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA16606554 rs_1057524696

1 SubmittersRCV000426239
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) SNV
Germline		 Chr12:47974797 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6534592 rs_781229123

3 SubmittersRCV000427970RCV000727461
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) SNV
Germline		 Chr12:47978674 Pathogenic Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16606625 rs_1057524114

4 SubmittersRCV001526694RCV000438911RCV004533123
NM_001844.5(COL2A1):c.1925G>T (p.Gly642Val) SNV
Germline		 Chr12:47984103 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA16606628 rs_1057524602

1 SubmittersRCV000430070
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln) SNV
Germline		 Chr12:47974141 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534510 rs_745349011

3 SubmittersRCV000422902RCV002525526
NM_001844.5(COL2A1):c.1734+3A>C SNV
Germline		 Chr12:47985531 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA16607295 rs_1057521852

1 SubmittersRCV000422960
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) SNV
Germline		 Chr12:47980941 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA16619525 rs_1064796660

3 SubmittersRCV000485567
NM_001844.5(COL2A1):c.1330G>A (p.Gly444Ser) SNV
Germline		 Chr12:47987113 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA16619528 rs_1064796332

1 SubmittersRCV000483756
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) SNV
Germline		 Chr12:47987143 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
Hearing impairment
COL2A1-related disorder
not specified
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535523 rs_140985224

9 SubmittersRCV000723634RCV001110199RCV001375461RCV004535536RCV005239076RCV006458413
NM_001844.5(COL2A1):c.1266+5G>A SNV
Germline		 Chr12:47987264 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA16619529 rs_1064794958

3 SubmittersRCV000478289
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp) SNV
Germline		 Chr12:47995882 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA16619530 rs_1064794264

2 SubmittersRCV000484205
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg) SNV
Germline		 Chr12:48000072 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA16619531 rs_1064793352

2 SubmittersRCV000483696
NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg) SNV
Germline		 Chr12:47985560 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA16621635 rs_1064797167

1 SubmittersRCV000487933
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) SNV
Germline		 Chr12:47985811 Pathogenic Condition: not provided
Connective tissue disorder
Abnormal heart morphology
Micrognathia
See cases
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384551753 rs_1085307608

10 SubmittersRCV000489991RCV002279261RCV002264702RCV003155213RCV002286574
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) SNV
Germline		 Chr12:47989245 Pathogenic Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384555283 rs_1085307657

2 SubmittersRCV000490025RCV002470878
NM_001844.5(COL2A1):c.3626G>T (p.Gly1209Val) SNV
Germline		 Chr12:47975577 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537144 rs_1131692022

1 SubmittersRCV000494173
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) SNV
Germline		 Chr12:47995763 Pathogenic Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384523805 rs_1131691822

3 SubmittersRCV000494511RCV001089571RCV004527601
NM_001844.5(COL2A1):c.1941+1G>A SNV
Germline		 Chr12:47984086 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384548731 rs_1555166808

2 SubmittersRCV000498015
NM_001844.5(COL2A1):c.817-6T>G SNV
Germline		 Chr12:47994053 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA645372528 rs_1555168542

1 SubmittersRCV000498505
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val) SNV
Germline		 Chr12:47986887 Likely pathogenic not specified Criteria Provided
Single Submitter
 CA384553440 rs_1555167372

1 SubmittersRCV000506133
NM_001844.5(COL2A1):c.3157G>A (p.Gly1053Arg) SNV
Germline		 Chr12:47977608 Likely pathogenic not specified Criteria Provided
Single Submitter
 CA384540509 rs_1555165237

1 SubmittersRCV000507036
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) SNV
Germline		 Chr12:47986410 Conflicting classifications of pathogenicity not specified
Kniest dysplasia
Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA236527658 rs_556023617

5 SubmittersRCV000506554RCV001253129RCV001361814RCV004735582
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser) SNV
Germline		 Chr12:47985956 Pathogenic not specified
Condition: not provided
Autosomal dominant COL2A1-related disorders
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384552209 rs_1555167156

6 SubmittersRCV000508041RCV001093221RCV006695614RCV006704738
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) SNV
Germline		 Chr12:47982900 Conflicting classifications of pathogenicity not specified
Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384547035 rs_1555166537

3 SubmittersRCV000506248RCV003988849RCV006463181
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) SNV
Germline		 Chr12:47977626 Likely pathogenic not specified
Achondrogenesis type II		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384540546 rs_1555165245

2 SubmittersRCV000507539RCV001198649
NM_001844.5(COL2A1):c.2492G>T (p.Gly831Val) SNV
Germline		 Chr12:47980940 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544960 rs_1555166013

1 SubmittersRCV000515111
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His) SNV
Germline		 Chr12:47975548 Likely pathogenic Spondyloepiphyseal dysplasia, Stanescu type
Condition: not provided		 Criteria Provided
Single Submitter
 CA16021322 rs_760093841

2 SubmittersRCV000515452RCV001269915
NM_001844.5(COL2A1):c.4363C>T (p.Gln1455Ter) SNV
Germline		 Chr12:47973508 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533279 rs_1555164217

1 SubmittersRCV000522004
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) SNV
Germline		 Chr12:47974271 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis type II		 Criteria Provided
Conflicting Classifications
 CA6534529 rs_141951587

3 SubmittersRCV000520302RCV001805138
NM_001844.5(COL2A1):c.3597+1G>A SNV
Germline		 Chr12:47975962 Pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537251 rs_1555164874

2 SubmittersRCV000519873RCV006704748
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) SNV
Germline		 Chr12:47982940 Pathogenic Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384547258 rs_1555166555

6 SubmittersRCV000522045RCV000988825
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser) SNV
Germline		 Chr12:47984131 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384549076 rs_1555166826

2 SubmittersRCV000521936
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp) SNV
Germline		 Chr12:47987175 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384554070 rs_1555167449

2 SubmittersRCV000521567
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser) SNV
Germline		 Chr12:47987703 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA236528133 rs_1045330263

2 SubmittersRCV000521575
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) SNV
Germline		 Chr12:47993828 Pathogenic/Likely pathogenic Condition: not provided
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal dysplasia congenita
Abnormality of the skeletal system
16 conditions
Type 2 collagenopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384521889 rs_1555168505

7 SubmittersRCV000518971RCV001027723RCV001254635RCV001814182RCV002506265RCV006458456
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser) SNV
Germline		 Chr12:47997629 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535912 rs_200882049

2 SubmittersRCV000522118
NM_001844.5(COL2A1):c.350G>C (p.Gly117Ala) SNV
Germline		 Chr12:47998057 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6535980 rs_201192882

4 SubmittersRCV006725856RCV000522522
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu) SNV
Germline		 Chr12:47983699 Pathogenic Achondrogenesis type II Criteria Provided
Single Submitter
 CA384548391 rs_1555166729

1 SubmittersRCV000578377
NM_001844.5(COL2A1):c.1369G>T (p.Glu457Ter) SNV
Germline		 Chr12:47986885 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553435 rs_1555167368

1 SubmittersRCV000579316
NM_001844.5(COL2A1):c.655-1G>C SNV
Germline		 Chr12:47995764 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523806 rs_1555168840

1 SubmittersRCV000578775
NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp) SNV
Germline		 Chr12:47980597 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544420 rs_1209546147

1 SubmittersRCV005251153
NM_001844.5(COL2A1):c.2355+5G>A SNV
Germline		 Chr12:47982102 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA658797885 rs_1555166294

3 SubmittersRCV000593415
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) SNV
Germline		 Chr12:47978351 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534946 rs_566132150

2 SubmittersRCV000594675
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) SNV
Germline		 Chr12:47989273 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA6535611 rs_202002349

6 SubmittersRCV000726818RCV004543335RCV005435041
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) SNV
Germline		 Chr12:47982882 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384546968 rs_1555166528

2 SubmittersRCV000593344
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) SNV
Germline		 Chr12:47982155 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6535145 rs_145023922

4 SubmittersRCV000727249RCV004689805
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) SNV
Germline		 Chr12:47977616 Likely pathogenic Condition: not provided
Achondrogenesis type II		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384540524 rs_1555165242

3 SubmittersRCV000593974RCV001822860
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) SNV
Germline		 Chr12:47975504 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534665 rs_141944722

3 SubmittersRCV000593064
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) SNV
Germline		 Chr12:47982898 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384547026 rs_1482498887

4 SubmittersRCV000593043RCV006725888
NM_001844.5(COL2A1):c.3435+18C>T SNV
Germline		 Chr12:47976794 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534766 rs_375024988

2 SubmittersRCV000594686
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) SNV
Germline		 Chr12:47987656 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535584 rs_201575114

5 SubmittersRCV000727503
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) SNV
Germline		 Chr12:47976862 Conflicting classifications of pathogenicity not specified
Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534774 rs_745633496

5 SubmittersRCV000614112RCV001109933RCV001474367RCV004544744RCV006459655
NM_001844.5(COL2A1):c.1122+4C>T SNV
Germline		 Chr12:47989224 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA236528577 rs_1041494793

2 SubmittersRCV000603033RCV002528534
NM_001844.5(COL2A1):c.1023+3G>A SNV
Germline		 Chr12:47992875 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535660 rs_374570848

3 SubmittersRCV001112956RCV001697443RCV006459648
NM_001844.5(COL2A1):c.2301+5G>A SNV
Germline		 Chr12:47982497 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA604850490 rs_1335619157

2 SubmittersRCV001698068
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) SNV
Germline		 Chr12:47973545 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6534479 rs_201223454

5 SubmittersRCV000729977RCV004543416
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) SNV
Germline		 Chr12:47977645 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
not specified
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA236521255 rs_367982631

6 SubmittersRCV001112704RCV001481593RCV001729657RCV004544754RCV006459657
NM_001844.5(COL2A1):c.969+6T>C SNV
Germline		 Chr12:47993452 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535691 rs_139163410

4 SubmittersRCV000940547RCV002279409RCV004530783
NM_001844.5(COL2A1):c.3879G>A (p.Trp1293Ter) SNV
Germline		 Chr12:47975324 Pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA384536302 rs_1555164672

1 SubmittersRCV000624506
NM_001844.5(COL2A1):c.3265G>A (p.Gly1089Arg) SNV
Germline		 Chr12:47977328 Pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA384539972 rs_1555165183

1 SubmittersRCV000623740
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala) SNV
Germline		 Chr12:47978044 Likely pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA384540690 rs_1555165336

1 SubmittersRCV000623306
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp) SNV
Germline		 Chr12:47978703 Likely pathogenic Inborn genetic diseases
Fetal anomalies with a likely genetic cause		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384542333 rs_1555165501

2 SubmittersRCV000622409RCV006649099
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys) SNV
Germline		 Chr12:47985965 Pathogenic Inborn genetic diseases
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384552243 rs_1555167157

2 SubmittersRCV000623786RCV006741281
NM_001844.5(COL2A1):c.1061G>T (p.Gly354Val) SNV
Germline		 Chr12:47989768 Likely pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA384555423 rs_1555167847

1 SubmittersRCV000624737
NM_001844.5(COL2A1):c.3203G>A (p.Gly1068Glu) SNV
Germline		 Chr12:47977390 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540378 rs_1555165195

1 SubmittersRCV000658381
NM_001844.5(COL2A1):c.2195G>A (p.Gly732Asp) SNV
Germline		 Chr12:47982608 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384546365 rs_1555166457

1 SubmittersRCV000658409
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) SNV
Germline		 Chr12:47975480 Conflicting classifications of pathogenicity Connective tissue disorder
Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534656 rs_200993187

5 SubmittersRCV000659405RCV001113968RCV001511229RCV006459778
NM_001844.5(COL2A1):c.3166-1G>A SNV
Germline		 Chr12:47977428 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384540484 rs_1555165204

1 SubmittersRCV000659402
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) SNV
Germline		 Chr12:47982158 Conflicting classifications of pathogenicity Connective tissue disorder
Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA236524266 rs_925297712

3 SubmittersRCV000659397RCV002066958RCV002470945
NM_001844.5(COL2A1):c.2049+1G>A SNV
Germline		 Chr12:47983384 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384547778 rs_1555166658

1 SubmittersRCV000659394
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp) SNV
Germline		 Chr12:47985937 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384552070 rs_1555167139

1 SubmittersRCV000659393
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) SNV
Germline		 Chr12:47987655 Pathogenic Stickler syndrome type 1
Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236528118 rs_1025202963

5 SubmittersRCV000659391RCV001868174RCV005253030
NM_001844.5(COL2A1):c.1114G>A (p.Gly372Arg) SNV
Germline		 Chr12:47989236 Pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384555256 rs_1555167783

1 SubmittersRCV000659390
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) SNV
Germline		 Chr12:47996607 Conflicting classifications of pathogenicity Connective tissue disorder
Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535885 rs_201817670

5 SubmittersRCV000659386RCV001111049RCV001433646RCV006459777
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) SNV
Germline		 Chr12:48000055 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided
Inborn genetic diseases
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384526460 rs_1246771678

5 SubmittersRCV000659383RCV001387827RCV004609480RCV004533444
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala) SNV
Germline		 Chr12:47974835 Conflicting classifications of pathogenicity Connective tissue disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384536102 rs_121912887

2 SubmittersRCV000680491RCV002544697
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) SNV
Germline		 Chr12:47994442 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA6535781 rs_376753701

5 SubmittersRCV000728040RCV001114314RCV006459867RCV006692632
NM_001844.5(COL2A1):c.2410-7C>T SNV
Germline		 Chr12:47981403 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535101 rs_767041085

3 SubmittersRCV000728047
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His) SNV
Germline		 Chr12:47974270 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534527 rs_754487319

4 SubmittersRCV000728409
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=) SNV
Germline		 Chr12:47974116 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534506 rs_554488169

2 SubmittersRCV000729129
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) SNV
Germline		 Chr12:47974290 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
Connective tissue disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534532 rs_150237416

6 SubmittersRCV000729624RCV001109851RCV002279503RCV006459869
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) SNV
Germline		 Chr12:47995885 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535862 rs_766480693

2 SubmittersRCV000730088
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=) SNV
Germline		 Chr12:47977371 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA479453842 rs_746453469

2 SubmittersRCV000731341
NM_001844.5(COL2A1):c.310G>T (p.Gly104Ter) SNV
Germline		 Chr12:47998201 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525441 rs_764210489

1 SubmittersRCV000732165
NM_001844.5(COL2A1):c.1123-1G>A SNV
Germline		 Chr12:47987710 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554671 rs_1565684864

1 SubmittersRCV000732636
NM_001844.5(COL2A1):c.3887-1G>C SNV
Germline		 Chr12:47974863 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384536231 rs_1565666318

1 SubmittersRCV000732663
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) SNV
Germline		 Chr12:47973418 Conflicting classifications of pathogenicity Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Conflicting Classifications
 CA384533089 rs_1565664095

3 SubmittersRCV000733654RCV000853298
NM_001844.5(COL2A1):c.591A>T (p.Gly197=) SNV
Germline		 Chr12:47996566 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535878 rs_747274874

2 SubmittersRCV000733967
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) SNV
Unknown		 Chr12:47983399 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384547870 rs_1565679039

1 SubmittersRCV000735218
NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg) SNV
Germline		 Chr12:47978740 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384543429 rs_1565672299

1 SubmittersRCV000757108
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) SNV
Germline		 Chr12:47980559 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535046 rs_377198201

5 SubmittersRCV000755954RCV004527771RCV005540161
NM_001844.5(COL2A1):c.1717G>A (p.Gly573Ser) SNV
Germline		 Chr12:47985551 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384551017 rs_886042741

1 SubmittersRCV000755952
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) SNV
Germline		 Chr12:47987085 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384553700 rs_794727339

3 SubmittersRCV000755953
NM_001844.5(COL2A1):c.4008G>A (p.Trp1336Ter) SNV
Germline		 Chr12:47974741 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384535660 rs_1565666048

1 SubmittersRCV000760586
NM_001844.5(COL2A1):c.2566C>T (p.Gln856Ter) SNV
Germline		 Chr12:47980613 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544456 rs_1565674604

1 SubmittersRCV000760572
NM_001844.5(COL2A1):c.1399C>T (p.Gln467Ter) SNV
Germline		 Chr12:47986855 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553241 rs_1565683713

1 SubmittersRCV000760602
NM_001844.5(COL2A1):c.1030C>T (p.Arg344Ter) SNV
Germline		 Chr12:47989799 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384555484 rs_1565686896

4 SubmittersRCV000760401
NM_001844.5(COL2A1):c.1122+1G>C SNV
Unknown		 Chr12:47989227 Likely pathogenic Kniest dysplasia No Assertion Criteria Provided
 CA384555220 rs_1565686170

1 SubmittersRCV000761423
NM_001844.5(COL2A1):c.2083G>A (p.Val695Met) SNV
Germline		 Chr12:47983104 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535250 rs_751036439

2 SubmittersRCV000761824
NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp) SNV
Germline		 Chr12:47983410 Pathogenic Spondyloepiphyseal dysplasia congenita
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384547953 rs_1565679062

2 SubmittersRCV000770981RCV001387556
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) SNV
Germline		 Chr12:47986343 Likely pathogenic Achondrogenesis type II Criteria Provided
Single Submitter
 CA384552404 rs_868417981

1 SubmittersRCV000781310
NM_001844.5(COL2A1):c.1680+2T>G SNV
Germline		 Chr12:47985726 Likely pathogenic Achondrogenesis type II Criteria Provided
Single Submitter
 CA384551301 rs_1565681966

1 SubmittersRCV000781309
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser) SNV
Germline		 Chr12:47977629 Conflicting classifications of pathogenicity Stickler syndrome, type I, nonsyndromic ocular Criteria Provided
Conflicting Classifications
 CA384540549 rs_751205887

2 SubmittersRCV000789039
NM_001844.5(COL2A1):c.719G>A (p.Gly240Asp) SNV
Germline		 Chr12:47995298 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384523390 rs_1592232040

2 SubmittersRCV000821665
NM_001844.5(COL2A1):c.3454G>C (p.Gly1152Arg) SNV
Germline		 Chr12:47976549 Pathogenic Spondyloepiphyseal dysplasia, Stanescu type
Type 2 collagenopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537543 rs_1592198747

2 SubmittersRCV000824844RCV006741303
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) SNV
Germline		 Chr12:47984104 Pathogenic/Likely pathogenic COL2A1-related skeletal dysplasia
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384548859 rs_794727472

2 SubmittersRCV000853367RCV001002357
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter) SNV
Unknown		 Chr12:47975489 Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant Criteria Provided
Single Submitter
 CA384536849 rs_1481453913

1 SubmittersRCV000856777
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr) SNV
Unknown		 Chr12:47987703 Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant Criteria Provided
Single Submitter
 CA384554654 rs_1045330263

1 SubmittersRCV000856812
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=) SNV
Germline		 Chr12:47974221 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA479450204 rs_1284508374

2 SubmittersRCV000884740
NM_001844.5(COL2A1):c.279C>T (p.Leu93=) SNV
Germline		 Chr12:47999932 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6536061 rs_774746221

2 SubmittersRCV000925312
NM_001844.5(COL2A1):c.1187G>A (p.Gly396Asp) SNV
Germline		 Chr12:47987645 Likely pathogenic COL2A1-related phenotype No Assertion Criteria Provided
 CA384554465 rs_1592221192

1 SubmittersRCV000985043
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) SNV
Germline		 Chr12:47973528 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384533317 rs_1481212897

4 SubmittersRCV000988817RCV001858697RCV006666570
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) SNV
Germline		 Chr12:47978108 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6534912 rs_753342774

3 SubmittersRCV000988820RCV003558623RCV006249697
NM_001844.5(COL2A1):c.2679+1G>A SNV
Unknown		 Chr12:47980008 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384544150 rs_1592205758

1 SubmittersRCV000988822
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) SNV
Unknown		 Chr12:47980583 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384544391 rs_1592206729

1 SubmittersRCV000988823
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) SNV
Unknown		 Chr12:47983709 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384548471 rs_1269619781

1 SubmittersRCV000988826
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val) SNV
Germline		 Chr12:47974851 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534603 rs_556788032

4 SubmittersRCV000994903RCV002550668
NM_001844.5(COL2A1):c.3527G>A (p.Gly1176Asp) SNV
Germline		 Chr12:47976033 Pathogenic/Likely pathogenic Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537387 rs_1592197752

3 SubmittersRCV000994904RCV006709036
NM_001844.5(COL2A1):c.3598-1G>A SNV
Germline		 Chr12:47975606 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537241 rs_1592196867

2 SubmittersRCV000995717RCV003708556
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) SNV
Germline		 Chr12:47974117 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6534507 rs_147559634

3 SubmittersRCV001000802RCV001337622
NM_001844.5(COL2A1):c.1934G>C (p.Gly645Ala) SNV
Germline		 Chr12:47984094 Likely pathogenic not specified Criteria Provided
Single Submitter
 CA384548801 rs_1592214400

1 SubmittersRCV001000706
NM_001844.5(COL2A1):c.1527+135G>A SNV
Germline		 Chr12:47986201 Pathogenic/Likely pathogenic Stargardt disease
Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA915948787 rs_1592218346

5 SubmittersRCV001002986RCV001571488RCV005253675
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) SNV
Germline		 Chr12:47980029 Pathogenic/Likely pathogenic Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder
Stickler syndrome, type I, nonsyndromic ocular
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384544227 rs_1399676515

7 SubmittersRCV001008652RCV002291290RCV005871111RCV005408641RCV006605312
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala) SNV
Germline		 Chr12:47975997 Likely pathogenic Spondyloepiphyseal dysplasia, Stanescu type Criteria Provided
Single Submitter
 CA384537311 rs_1592197682

1 SubmittersRCV001029739
NM_001844.5(COL2A1):c.3436-2A>G SNV
Germline		 Chr12:47976569 Likely pathogenic Spondyloperipheral dysplasia No Assertion Criteria Provided
 CA384537584 rs_1592198803

1 SubmittersRCV001029820
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys) SNV
Germline		 Chr12:47975386 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534636 rs_778838205

3 SubmittersRCV001052839RCV003353131
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu) SNV
Germline		 Chr12:47975520 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534668 rs_371974287

2 SubmittersRCV001064726
NM_001844.5(COL2A1):c.3106C>G (p.Arg1036Gly) SNV
Germline		 Chr12:47978015 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534899 rs_748459670

3 SubmittersRCV001057583
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) SNV
Germline		 Chr12:47978385 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
Connective tissue disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534948 rs_371268468

4 SubmittersRCV001041428RCV001114066RCV002276596RCV006455357
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser) SNV
Germline		 Chr12:47981817 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384545535 rs_1306517572

3 SubmittersRCV001063513RCV004030495
NM_001844.5(COL2A1):c.2141G>T (p.Gly714Val) SNV
Germline		 Chr12:47982900 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547033 rs_1555166537

1 SubmittersRCV001068484
NM_001844.5(COL2A1):c.1694G>A (p.Arg565His) SNV
Germline		 Chr12:47985574 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia		 Criteria Provided
Conflicting Classifications
 CA6535407 rs_372182200

2 SubmittersRCV001048534RCV005359810
NM_001844.5(COL2A1):c.1645G>A (p.Gly549Ser) SNV
Germline		 Chr12:47985763 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA236527459 rs_907944585

2 SubmittersRCV001063208
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) SNV
Germline		 Chr12:47993486 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535699 rs_778135776

5 SubmittersRCV001039132RCV003160248
NM_001844.5(COL2A1):c.662A>C (p.Gln221Pro) SNV
Germline		 Chr12:47995756 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535845 rs_368187891

3 SubmittersRCV001044381RCV004031358
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) SNV
Germline		 Chr12:48000018 Conflicting classifications of pathogenicity Condition: not provided
MASS syndrome		 Criteria Provided
Conflicting Classifications
 CA384526262 rs_1940156255

3 SubmittersRCV001046146RCV001731194
NM_001844.5(COL2A1):c.1122+2T>A SNV
Germline		 Chr12:47989226 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555214 rs_1939584878

1 SubmittersRCV001049188
NM_001844.5(COL2A1):c.1833+1G>A SNV
Germline		 Chr12:47984994 Pathogenic Retinal dystrophy
Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384550450 rs_1939312423

4 SubmittersRCV001074728RCV001387557RCV002290588
NM_001844.5(COL2A1):c.1221+1G>A SNV
Germline		 Chr12:47987610 Pathogenic Condition: not provided
COL2A1-related disorder
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384554335 rs_1399741348

4 SubmittersRCV001377071RCV004734006RCV006443707
NM_001844.5(COL2A1):c.3599G>A (p.Gly1200Asp) SNV
Germline		 Chr12:47975604 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537235 rs_1362154291

1 SubmittersRCV001093220
NM_001844.5(COL2A1):c.85C>T (p.Gln29Ter) SNV
Germline		 Chr12:48004237 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384528134 rs_1940368506

2 SubmittersRCV001090712
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser) SNV
Germline		 Chr12:47983429 Pathogenic/Likely pathogenic Connective tissue disorder
Spondyloepiphyseal dysplasia congenita
Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384548087 rs_1939205327

4 SubmittersRCV002276622RCV001787123RCV002555977RCV004528383
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) SNV
Germline		 Chr12:47973423 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534451 rs_376442872

3 SubmittersRCV001112534RCV001772326RCV006455425
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) SNV
Germline		 Chr12:47973521 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6534475 rs_137948104

5 SubmittersRCV001112536RCV001410869RCV006455433RCV004538334
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr) SNV
Germline		 Chr12:47974313 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534540 rs_202105427

2 SubmittersRCV001109854RCV001245820RCV006455420
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) SNV
Germline		 Chr12:47975490 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Connective tissue disorder
COL2A1-related disorder
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534662 rs_199726428

5 SubmittersRCV001113969RCV001320848RCV002276626RCV004734019RCV006455442
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) SNV
Germline		 Chr12:47975540 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534671 rs_2276459

2 SubmittersRCV001113971RCV001517493RCV006455443
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) SNV
Germline		 Chr12:47976055 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
not specified
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534717 rs_760390497

5 SubmittersRCV001109931RCV001337220RCV006455422RCV006455421
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) SNV
Germline		 Chr12:47977121 Conflicting classifications of pathogenicity Stickler syndrome type 1
Intellectual disability
Inborn genetic diseases
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA384539526 rs_1180226091

4 SubmittersRCV001110723RCV001251955RCV002555076RCV002556166RCV006455427
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) SNV
Germline		 Chr12:47978687 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA236521970 rs_948633441

2 SubmittersRCV001110026RCV001413346RCV006455423
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala) SNV
Germline		 Chr12:47987694 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535588 rs_748511528

2 SubmittersRCV001110954RCV003727861RCV006455430
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) SNV
Germline		 Chr12:47994462 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA384522473 rs_1470645150

2 SubmittersRCV001114316RCV003679035RCV006455445
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) SNV
Germline		 Chr12:47995306 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535819 rs_764487245

2 SubmittersRCV001114317RCV002556237RCV006455446
NM_001844.5(COL2A1):c.4074+12G>T SNV
Germline		 Chr12:47974663 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6534567 rs_201312340

3 SubmittersRCV001110643RCV001811662RCV006455426
NM_001844.5(COL2A1):c.2410-13T>G SNV
Germline		 Chr12:47981409 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535102 rs_574507277

2 SubmittersRCV001112797RCV002069818RCV006455436
NM_001844.5(COL2A1):c.924+14A>C SNV
Germline		 Chr12:47993795 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA604837764 rs_1475810942

2 SubmittersRCV001112958RCV006465392RCV006455438
NM_001844.5(COL2A1):c.708+14C>T SNV
Germline		 Chr12:47995696 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA6535837 rs_769173275

2 SubmittersRCV001110295RCV001415618RCV006455424
NM_001844.5(COL2A1):c.3971T>G (p.Val1324Gly) SNV
Germline		 Chr12:47974778 Likely pathogenic Short stature No Assertion Criteria Provided
 CA384535820 rs_1938610955

1 SubmittersRCV001175298
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp) SNV
Germline		 Chr12:47989795 Pathogenic Spondylometaphyseal dysplasia - Sutcliffe type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384555478 rs_1939617011

3 SubmittersRCV001194466RCV001231441
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) SNV
Germline		 Chr12:47975985 Conflicting classifications of pathogenicity Achondrogenesis type II
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6534704 rs_779252535

3 SubmittersRCV001196430RCV002560221
NM_001844.5(COL2A1):c.2355+1G>A SNV
Germline		 Chr12:47982106 Pathogenic Achondrogenesis type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384545605 rs_1939124946

2 SubmittersRCV001199202RCV001876285
NM_001844.5(COL2A1):c.1941+18C>T SNV
Germline		 Chr12:47984069 Conflicting classifications of pathogenicity Achondrogenesis type II
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6535318 rs_753819738

2 SubmittersRCV001198617RCV002560251
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) SNV
Germline		 Chr12:47986358 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA236527639 rs_904660062

6 SubmittersRCV001223432RCV004734057
NM_001844.5(COL2A1):c.410G>A (p.Arg137His) SNV
Germline		 Chr12:47997890 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535949 rs_201675352

4 SubmittersRCV001221874RCV002563023RCV004734056
NM_001844.5(COL2A1):c.4420G>A (p.Glu1474Lys) SNV
Germline		 Chr12:47973451 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534456 rs_540750398

3 SubmittersRCV001206377RCV004033670
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr) SNV
Germline		 Chr12:47974715 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534578 rs_775279845

2 SubmittersRCV001204884
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) SNV
Germline		 Chr12:47984578 Conflicting classifications of pathogenicity Condition: not provided
16 conditions		 Criteria Provided
Conflicting Classifications
 CA384549470 rs_1431778644

3 SubmittersRCV001207459RCV002480678
NM_001844.5(COL2A1):c.578G>A (p.Gly193Asp) SNV
Germline		 Chr12:47996579 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535882 rs_764878166

4 SubmittersRCV001212399RCV001374535RCV004734052
NM_001844.5(COL2A1):c.506C>A (p.Pro169His) SNV
Germline		 Chr12:47997631 Conflicting classifications of pathogenicity Condition: not provided
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535915 rs_746108926

4 SubmittersRCV001213167RCV005236689RCV005802056
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter) SNV
Germline		 Chr12:48000096 Pathogenic Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384526708 rs_1940161368

3 SubmittersRCV001213799RCV001266759
NM_001844.5(COL2A1):c.3328-2A>G SNV
Germline		 Chr12:47976921 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539276 rs_1938737244

1 SubmittersRCV001207604
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) SNV
Germline		 Chr12:47975376 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6534632 rs_142168567

4 SubmittersRCV001230190RCV004538482
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln) SNV
Germline		 Chr12:47975484 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534658 rs_770482348

3 SubmittersRCV001230216RCV002563735
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) SNV
Germline		 Chr12:47976049 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534714 rs_147750391

4 SubmittersRCV001229531RCV005532883
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys) SNV
Germline		 Chr12:47978392 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534949 rs_144572461

3 SubmittersRCV001226631RCV005802069
NM_001844.5(COL2A1):c.247G>A (p.Gly83Arg) SNV
Germline		 Chr12:47999964 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6536068 rs_762911032

3 SubmittersRCV001238519RCV005540336
NM_001844.5(COL2A1):c.214G>A (p.Val72Met) SNV
Germline		 Chr12:47999997 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6536074 rs_755705390

2 SubmittersRCV001230757RCV006702496
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser) SNV
Germline		 Chr12:48000060 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA236494993 rs_945234297

2 SubmittersRCV001232295
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg) SNV
Germline		 Chr12:48000099 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6536091 rs_765855138

2 SubmittersRCV001235397
NM_001844.5(COL2A1):c.2509G>C (p.Gly837Arg) SNV
Germline		 Chr12:47980923 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544892 rs_1939031863

1 SubmittersRCV001247185
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His) SNV
Germline		 Chr12:47987684 Conflicting classifications of pathogenicity Condition: not provided
15 conditions		 Criteria Provided
Conflicting Classifications
 CA384554613 rs_1417502139

2 SubmittersRCV001248248RCV004796388
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp) SNV
Germline		 Chr12:47986406 Likely pathogenic Spondyloepiphyseal dysplasia congenita
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384552753 rs_1939412490

2 SubmittersRCV001251152RCV001879814
NM_001844.5(COL2A1):c.3111+2T>C SNV
Germline		 Chr12:47978008 Pathogenic Type 2 collagenopathy No Assertion Criteria Provided
 CA384540605 rs_1938818395

1 SubmittersRCV001788433
NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg) SNV
Germline		 Chr12:47976007 Pathogenic Spondyloepiphyseal dysplasia congenita No Assertion Criteria Provided
 CA384537332 rs_1938688718

1 SubmittersRCV001257162
NM_001844.5(COL2A1):c.2302-2A>G SNV
Germline		 Chr12:47982162 Pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA384545819 rs_1939127867

1 SubmittersRCV001266332
NM_001844.5(COL2A1):c.1682G>T (p.Gly561Val) SNV
Germline		 Chr12:47985586 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384551233 rs_1939349946

1 SubmittersRCV001268744
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala) SNV
Germline		 Chr12:47975970 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384537265 rs_1938686073

2 SubmittersRCV001269669
NM_001844.5(COL2A1):c.3437G>A (p.Gly1146Asp) SNV
Germline		 Chr12:47976566 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537576 rs_1938719104

1 SubmittersRCV001269677
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) SNV
Germline		 Chr12:47978630 Pathogenic/Likely pathogenic Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy
COL2A1-related skeletal dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA479696709 rs_367806541

13 SubmittersRCV001269946RCV002294450RCV005401818RCV006636277
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) SNV
Germline		 Chr12:47983128 Pathogenic/Likely pathogenic Condition: not provided
Spondyloepiphyseal dysplasia with metatarsal shortening
Stickler syndrome type 1
COL2A1-related disorder
16 conditions
Autosomal dominant COL2A1-related disorders
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16609685 rs_1939189846

10 SubmittersRCV001270004RCV001332046RCV003989668RCV005866914RCV006257332RCV006695682RCV006726188
NM_001844.5(COL2A1):c.3464G>A (p.Gly1155Asp) SNV
Germline		 Chr12:47976539 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537523 rs_1938716355

1 SubmittersRCV001812434
NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu) SNV
Germline		 Chr12:47976557 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537560 rs_1938718512

1 SubmittersRCV001813128
NM_001844.5(COL2A1):c.3328G>T (p.Gly1110Cys) SNV
Germline		 Chr12:47976919 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539258 rs_1938737050

1 SubmittersRCV001810664
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val) SNV
Germline		 Chr12:47979554 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384543957 rs_1281743095

1 SubmittersRCV001810560
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) SNV
Germline		 Chr12:47987112 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384553834 rs_1939463507

3 SubmittersRCV001384787
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) SNV
Germline		 Chr12:47989777 Conflicting classifications of pathogenicity Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Conflicting Classifications
 CA384555437 rs_1939615464

3 SubmittersRCV001812387RCV003389070
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly) SNV
Germline		 Chr12:48000054 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6536084 rs_776744207

3 SubmittersRCV001297636RCV005802096
NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser) SNV
Germline		 Chr12:47978632 Pathogenic Spondyloepiphyseal dysplasia congenita
Condition: not provided		 Criteria Provided
Single Submitter
 CA384541947 rs_1938864270

2 SubmittersRCV001293670RCV006270487
NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser) SNV
Unknown		 Chr12:47986861 Likely pathogenic Spondyloperipheral dysplasia No Assertion Criteria Provided
 CA384553291 rs_1939445848

1 SubmittersRCV001293715
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn) SNV
Germline		 Chr12:47974729 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534580 rs_763777663

3 SubmittersRCV001301279RCV004978268
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile) SNV
Germline		 Chr12:47977605 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis type II
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA236521162 rs_371635111

3 SubmittersRCV001300288RCV001332047RCV004734105
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile) SNV
Germline		 Chr12:47978347 Conflicting classifications of pathogenicity Condition: not provided
15 conditions		 Criteria Provided
Conflicting Classifications
 CA6534944 rs_772889503

3 SubmittersRCV001309320RCV004796599
NM_001844.5(COL2A1):c.1880G>A (p.Gly627Asp) SNV
Germline		 Chr12:47984553 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384549305 rs_1939280733

1 SubmittersRCV001305957
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) SNV
Germline		 Chr12:47989772 Conflicting classifications of pathogenicity Condition: not provided
16 conditions
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535630 rs_781554389

3 SubmittersRCV001300487RCV002486158RCV004531082
NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu) SNV
Germline		 Chr12:47993468 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535695 rs_200549186

3 SubmittersRCV001296399RCV005540361
NM_001844.5(COL2A1):c.2147A>G (p.Gln716Arg) SNV
Germline		 Chr12:47982894 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384547012 rs_1252045461

2 SubmittersRCV001311810
NM_001844.5(COL2A1):c.1888G>A (p.Gly630Ser) SNV
Germline		 Chr12:47984140 Likely pathogenic Condition: not provided
Legg-Calve-Perthes disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384549141 rs_1326550771

3 SubmittersRCV001311811RCV006646170
NM_001844.5(COL2A1):c.376-1G>A SNV
Germline		 Chr12:47997925 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384525055 rs_1940039533

2 SubmittersRCV001311814
NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val) SNV
Germline		 Chr12:47973523 Conflicting classifications of pathogenicity Condition: not provided
15 conditions		 Criteria Provided
Conflicting Classifications
 CA6534476 rs_113238468

2 SubmittersRCV001318454RCV005012764
NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met) SNV
Germline		 Chr12:47974151 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534512 rs_371226850

2 SubmittersRCV001318541
NM_001844.5(COL2A1):c.3760G>A (p.Glu1254Lys) SNV
Germline		 Chr12:47975443 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534647 rs_373684149

2 SubmittersRCV001324180RCV003263959
NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala) SNV
Germline		 Chr12:47976564 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA6534749 rs_139720910

3 SubmittersRCV001323608RCV004531113RCV005911045
NM_001844.5(COL2A1):c.3259G>C (p.Asp1087His) SNV
Germline		 Chr12:47977334 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384540046 rs_1354118542

2 SubmittersRCV001314855RCV003284177
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu) SNV
Germline		 Chr12:47977646 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA236521259 rs_978657987

2 SubmittersRCV001322568
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) SNV
Germline		 Chr12:47978114 Conflicting classifications of pathogenicity Condition: not provided
16 conditions		 Criteria Provided
Conflicting Classifications
 CA6534915 rs_376772481

4 SubmittersRCV001319757RCV002493673
NM_001844.5(COL2A1):c.1023+4A>G SNV
Germline		 Chr12:47992874 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA2034466062 rs_1939770285

2 SubmittersRCV001320195
NM_001844.5(COL2A1):c.445C>T (p.Arg149Cys) SNV
Germline		 Chr12:47997692 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA236492868 rs_144505311

2 SubmittersRCV001327770RCV006377006
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser) SNV
Germline		 Chr12:47997701 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384524906 rs_1181216326

2 SubmittersRCV001321614
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln) SNV
Germline		 Chr12:47997912 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535953 rs_375448469

2 SubmittersRCV001315678
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn) SNV
Germline		 Chr12:48000015 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA236494906 rs_976006680

2 SubmittersRCV001325892
NM_001844.5(COL2A1):c.2798G>A (p.Gly933Glu) SNV
Germline		 Chr12:47978694 Likely pathogenic Platyspondylic dysplasia, Torrance type
Condition: not provided		 Criteria Provided
Single Submitter
 CA384542284 rs_2136528309

2 SubmittersRCV001645002RCV002546239
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) SNV
Germline		 Chr12:47983137 Conflicting classifications of pathogenicity Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384547687 rs_1231988113

2 SubmittersRCV001333975RCV002546662
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=) SNV
Germline		 Chr12:47974257 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534524 rs_750227063

2 SubmittersRCV001342344
NM_001844.5(COL2A1):c.4102C>T (p.Pro1368Ser) SNV
Germline		 Chr12:47974304 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534536 rs_775650170

2 SubmittersRCV001337629
NM_001844.5(COL2A1):c.3827G>T (p.Arg1276Leu) SNV
Germline		 Chr12:47975376 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534633 rs_142168567

2 SubmittersRCV001349079
NM_001844.5(COL2A1):c.3317G>A (p.Arg1106Gln) SNV
Germline		 Chr12:47977112 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384539454 rs_1453392906

2 SubmittersRCV001352389RCV005540411
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly) SNV
Germline		 Chr12:47982153 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535143 rs_767686686

2 SubmittersRCV001340184
NM_001844.5(COL2A1):c.1735G>A (p.Gly579Arg) SNV
Germline		 Chr12:47985093 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384550827 rs_1939320461

1 SubmittersRCV001342706
NM_001844.5(COL2A1):c.1023+1G>C SNV
Germline		 Chr12:47992877 Pathogenic Multiple epiphyseal dysplasia, Beighton type
Kniest dysplasia		 Criteria Provided
Single Submitter
 CA384555597 rs_886043794

2 SubmittersRCV001353381RCV001787131
NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu) SNV
Germline		 Chr12:47975447 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384536760 rs_377079894

4 SubmittersRCV001362196RCV004531162RCV006377145
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser) SNV
Germline		 Chr12:47977352 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534830 rs_753709490

2 SubmittersRCV001371477
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly) SNV
Germline		 Chr12:47977650 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384540591 rs_780375782

3 SubmittersRCV001362427RCV002547796
NM_001844.5(COL2A1):c.2463G>A (p.Pro821=) SNV
Germline		 Chr12:47981343 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535092 rs_769766820

2 SubmittersRCV001359553
NM_001844.5(COL2A1):c.2219C>A (p.Pro740His) SNV
Germline		 Chr12:47982584 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535174 rs_774819000

2 SubmittersRCV001373636
NM_001844.5(COL2A1):c.1661C>T (p.Pro554Leu) SNV
Germline		 Chr12:47985747 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535429 rs_781636320

2 SubmittersRCV001372616
NM_001844.5(COL2A1):c.224G>T (p.Cys75Phe) SNV
Germline		 Chr12:47999987 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384526090 rs_2136637051

1 SubmittersRCV001364844
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn) SNV
Germline		 Chr12:47974813 Likely pathogenic MASS syndrome Criteria Provided
Single Submitter
 CA6534595 rs_745788222

1 SubmittersRCV001731208
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) SNV
Germline		 Chr12:47987079 Conflicting classifications of pathogenicity Stickler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6535512 rs_775754967

4 SubmittersRCV001375161RCV001568263
NM_001844.5(COL2A1):c.2756C>T (p.Pro919Leu) SNV
Germline		 Chr12:47978736 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia, Namaqualand type
Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6534987 rs_768207318

3 SubmittersRCV001375853RCV006466797RCV006705527
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp) SNV
Germline		 Chr12:47987112 Likely pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter
 CA384553842 rs_1939463507

1 SubmittersRCV001375980
NM_001844.5(COL2A1):c.4075-1G>T SNV
Germline		 Chr12:47974332 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384534029 rs_2136506437

1 SubmittersRCV001379467
NM_001844.5(COL2A1):c.3490-2A>G SNV
Germline		 Chr12:47976072 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537465 rs_2136514651

1 SubmittersRCV001377706
NM_001844.5(COL2A1):c.3436G>A (p.Gly1146Ser) SNV
Germline		 Chr12:47976567 Pathogenic/Likely pathogenic Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537579 rs_2136516927

2 SubmittersRCV001378815RCV005864564
NM_001844.5(COL2A1):c.3319G>A (p.Gly1107Arg) SNV
Germline		 Chr12:47977110 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539436 rs_2136519756

1 SubmittersRCV001378900
NM_001844.5(COL2A1):c.3274-2A>G SNV
Germline		 Chr12:47977157 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539828 rs_2136520141

1 SubmittersRCV001377069
NM_001844.5(COL2A1):c.3266G>A (p.Gly1089Glu) SNV
Germline		 Chr12:47977327 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539962 rs_2136521056

1 SubmittersRCV001376983
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser) SNV
Germline		 Chr12:47978686 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA6534978 rs_777615798

2 SubmittersRCV001377044RCV002286578
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser) SNV
Germline		 Chr12:47978704 Likely pathogenic Condition: not provided
Spondyloperipheral dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384542340 rs_886043540

2 SubmittersRCV001379612RCV002250755
NM_001844.5(COL2A1):c.2752G>T (p.Gly918Cys) SNV
Germline		 Chr12:47978740 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384543420 rs_1565672299

1 SubmittersRCV001377070
NM_001844.5(COL2A1):c.2726G>C (p.Gly909Ala) SNV
Germline		 Chr12:47979518 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384543800 rs_2136532206

1 SubmittersRCV001378814
NM_001844.5(COL2A1):c.2455G>A (p.Gly819Ser) SNV
Germline		 Chr12:47981351 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545166 rs_2136541965

1 SubmittersRCV001379145
NM_001844.5(COL2A1):c.2410-1G>A SNV
Germline		 Chr12:47981397 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545335 rs_2136542198

1 SubmittersRCV001379817
NM_001844.5(COL2A1):c.2356-1G>A SNV
Germline		 Chr12:47981830 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545588 rs_1341401004

1 SubmittersRCV001378506
NM_001844.5(COL2A1):c.2042G>T (p.Gly681Val) SNV
Germline		 Chr12:47983392 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547838 rs_2136554860

1 SubmittersRCV001377700
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) SNV
Germline		 Chr12:47983438 Pathogenic/Likely pathogenic Condition: not provided
Spondyloepimetaphyseal dysplasia, Strudwick type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384548157 rs_2136555177

3 SubmittersRCV001377342RCV005253819
NM_001844.5(COL2A1):c.1996-9G>A SNV
Germline		 Chr12:47983447 Pathogenic/Likely pathogenic Condition: not provided
not specified
COL2A1-related disorder
Type 2 collagenopathy
Inborn genetic diseases
Stickler syndrome type 1
Spondyloepimetaphyseal dysplasia, Strudwick type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2499221668 rs_2136555221

10 SubmittersRCV001378414RCV002246357RCV004545218RCV006249751RCV005532994RCV005622112RCV006699383
NM_001844.5(COL2A1):c.1789G>A (p.Gly597Arg) SNV
Germline		 Chr12:47985039 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384550625 rs_2136564137

1 SubmittersRCV001376946
NM_001844.5(COL2A1):c.1016G>A (p.Gly339Asp) SNV
Germline		 Chr12:47992885 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555610 rs_2136604676

1 SubmittersRCV001379830
NM_001844.5(COL2A1):c.1015G>A (p.Gly339Ser) SNV
Germline		 Chr12:47992886 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555613 rs_2136604691

1 SubmittersRCV001378962
NM_001844.5(COL2A1):c.1007G>A (p.Gly336Asp) SNV
Germline		 Chr12:47992894 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555624 rs_2136604776

1 SubmittersRCV001378604
NM_001844.5(COL2A1):c.683G>A (p.Gly228Asp) SNV
Germline		 Chr12:47995735 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523701 rs_2136618285

1 SubmittersRCV001378412
NM_001844.5(COL2A1):c.376-1G>C SNV
Germline		 Chr12:47997925 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525053 rs_1940039533

1 SubmittersRCV001379039
NM_001844.5(COL2A1):c.4405G>T (p.Asp1469Tyr) SNV
Germline		 Chr12:47973466 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533188 rs_2136502090

1 SubmittersRCV001389965
NM_001844.5(COL2A1):c.4293C>A (p.Tyr1431Ter) SNV
Germline		 Chr12:47974113 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533441 rs_2136504848

1 SubmittersRCV001388790
NM_001844.5(COL2A1):c.4159C>T (p.Gln1387Ter) SNV
Germline		 Chr12:47974247 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533742 rs_2136505738

1 SubmittersRCV001388681
NM_001844.5(COL2A1):c.3968G>C (p.Cys1323Ser) SNV
Germline		 Chr12:47974781 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384535837 rs_2136508586

1 SubmittersRCV001391017
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser) SNV
Germline		 Chr12:47976070 Pathogenic Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537460 rs_2136514646

4 SubmittersRCV001382420RCV002246366RCV005866990
NM_001844.5(COL2A1):c.2491G>C (p.Gly831Arg) SNV
Germline		 Chr12:47980941 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544967 rs_1064796660

1 SubmittersRCV001383250
NM_001844.5(COL2A1):c.2094+1G>C SNV
Germline		 Chr12:47983092 Pathogenic Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384547381 rs_2136552560

2 SubmittersRCV001385790RCV003493854
NM_001844.5(COL2A1):c.1259G>A (p.Gly420Glu) SNV
Germline		 Chr12:47987276 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554153 rs_2136577028

1 SubmittersRCV001387558
NM_001844.5(COL2A1):c.1214G>A (p.Gly405Asp) SNV
Germline		 Chr12:47987618 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554365 rs_2136579057

1 SubmittersRCV001385335
NM_001844.5(COL2A1):c.1142G>A (p.Gly381Asp) SNV
Germline		 Chr12:47987690 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554627 rs_1323542030

1 SubmittersRCV001385336
NM_001844.5(COL2A1):c.709-1G>C SNV
Germline		 Chr12:47995309 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523477 rs_2136616554

1 SubmittersRCV001385338
NM_001844.5(COL2A1):c.1A>G (p.Met1Val) SNV
Germline		 Chr12:48004321 Pathogenic Condition: not provided
15 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384528522 rs_2136652928

3 SubmittersRCV001387776RCV005005921
NM_001844.5(COL2A1):c.398C>A (p.Pro133His) SNV
Germline		 Chr12:47997902 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535951 rs_201234519

3 SubmittersRCV001399791RCV004734169
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=) SNV
Germline		 Chr12:47978600 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA6534966 rs_769500366

2 SubmittersRCV001456634RCV002276741
NM_001844.5(COL2A1):c.970-5T>C SNV
Germline		 Chr12:47992936 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA2499221681 rs_2136605096

2 SubmittersRCV001469561
NM_001844.5(COL2A1):c.4103C>T (p.Pro1368Leu) SNV
Germline		 Chr12:47974303 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534535 rs_149375186

3 SubmittersRCV001536928RCV002568927
NM_001844.5(COL2A1):c.4061A>T (p.Asn1354Ile) SNV
Germline		 Chr12:47974688 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534575 rs_200621622

3 SubmittersRCV001544906RCV002570666
NM_001844.5(COL2A1):c.2213G>T (p.Gly738Val) SNV
Germline		 Chr12:47982590 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384546276 rs_1367822001

1 SubmittersRCV001548395
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) SNV
Germline		 Chr12:47997691 Conflicting classifications of pathogenicity Condition: not provided
Spondyloperipheral dysplasia
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA6535929 rs_763538232

5 SubmittersRCV001544991RCV002466684RCV003365428RCV005237888
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp) SNV
Germline		 Chr12:47985822 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA236527490 rs_370407502

3 SubmittersRCV001551789RCV004536176
NM_001844.5(COL2A1):c.85+1G>T SNV
Germline		 Chr12:48004236 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384528129 rs_727503882

1 SubmittersRCV001549506
NM_001844.5(COL2A1):c.2950G>A (p.Gly984Ser) SNV
Germline		 Chr12:47978344 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384541314 rs_2136526413

1 SubmittersRCV001555111
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) SNV
Germline		 Chr12:47987700 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384554649 rs_2136579628

2 SubmittersRCV001556257
NM_001844.5(COL2A1):c.709-1G>A SNV
Germline		 Chr12:47995309 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523472 rs_2136616554

1 SubmittersRCV001563163
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser) SNV
Germline		 Chr12:47980968 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384545069 rs_2136539942

2 SubmittersRCV001564047RCV005094791
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) SNV
Germline		 Chr12:47985002 Likely pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384550472 rs_140580674

2 SubmittersRCV001564048RCV001865988
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His) SNV
Germline		 Chr12:47978328 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534940 rs_756155678

3 SubmittersRCV001566529
NM_001844.5(COL2A1):c.2132G>A (p.Gly711Asp) SNV
Germline		 Chr12:47982909 Pathogenic/Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384547070 rs_2136551433

2 SubmittersRCV001564624RCV006705555
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=) SNV
Germline		 Chr12:47974131 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534509 rs_41272767

2 SubmittersRCV001569921
NM_001844.5(COL2A1):c.1934G>A (p.Gly645Asp) SNV
Germline		 Chr12:47984094 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384548802 rs_1592214400

1 SubmittersRCV001571337
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His) SNV
Germline		 Chr12:47973495 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534468 rs_777416478

2 SubmittersRCV001575236
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) SNV
Germline		 Chr12:47978605 Pathogenic Condition: not provided
See cases		 Criteria Provided
Single Submitter
 CA384541761 rs_1215825701

2 SubmittersRCV001586411RCV003155420
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) SNV
Germline		 Chr12:47974853 Pathogenic Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384536187 rs_2136508909

4 SubmittersRCV001591924RCV003234087RCV004528523
NM_001844.5(COL2A1):c.3004-1G>A SNV
Germline		 Chr12:47978118 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384541029 rs_2136525334

2 SubmittersRCV001592251
NM_001844.5(COL2A1):c.2789G>C (p.Gly930Ala) SNV
Germline		 Chr12:47978703 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384542331 rs_1555165501

1 SubmittersRCV001596847
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg) SNV
Germline		 Chr12:47976052 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384537426 rs_121912891

2 SubmittersRCV001596849
NM_001844.5(COL2A1):c.3436G>T (p.Gly1146Cys) SNV
Germline		 Chr12:47976567 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537577 rs_2136516927

1 SubmittersRCV001596860
NM_001844.5(COL2A1):c.1204G>T (p.Gly402Trp) SNV
Germline		 Chr12:47987628 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384554399 rs_2136579085

2 SubmittersRCV001596861
NM_001844.5(COL2A1):c.4229C>A (p.Ala1410Asp) SNV
Germline		 Chr12:47974177 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533578 rs_2136505279

1 SubmittersRCV001596870
NM_001844.5(COL2A1):c.2563G>C (p.Gly855Arg) SNV
Germline		 Chr12:47980616 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544463 rs_1193507525

1 SubmittersRCV001596873
NM_001844.5(COL2A1):c.1528G>C (p.Gly510Arg) SNV
Germline		 Chr12:47985965 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384552245 rs_1555167157

1 SubmittersRCV001596878
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) SNV
Germline		 Chr12:47977644 Pathogenic Condition: not provided
Spondyloepimetaphyseal dysplasia, Strudwick type
Type 2 collagenopathy
Achondrogenesis type II
15 conditions
Spondyloperipheral dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384540581 rs_2136522964

10 SubmittersRCV001596880RCV001806243RCV003985103RCV003323909RCV004796645RCV005253868
NM_001844.5(COL2A1):c.2033G>A (p.Gly678Glu) SNV
Germline		 Chr12:47983401 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547880 rs_2136554879

1 SubmittersRCV001596885
NM_001844.5(COL2A1):c.1309C>T (p.Arg437Trp) SNV
Germline		 Chr12:47987134 Likely pathogenic Condition: not provided
Paediatric disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236527947 rs_917659377

2 SubmittersRCV001596899RCV006742361
NM_001844.5(COL2A1):c.3113G>A (p.Gly1038Glu) SNV
Germline		 Chr12:47977652 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540594 rs_2136523042

1 SubmittersRCV001596908
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val) SNV
Germline		 Chr12:47982527 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384545978 rs_2136548974

2 SubmittersRCV001597463
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu) SNV
Germline		 Chr12:47977378 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384540301 rs_1489240592

2 SubmittersRCV001597467
NM_001844.5(COL2A1):c.2572G>A (p.Gly858Ser) SNV
Germline		 Chr12:47980607 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544441 rs_2136537746

1 SubmittersRCV001597487
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) SNV
Germline		 Chr12:47979530 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384543855 rs_1271505111

5 SubmittersRCV001597506RCV006705562RCV005540474
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala) SNV
Germline		 Chr12:47980949 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384544991 rs_2136539832

2 SubmittersRCV001597514
NM_001844.5(COL2A1):c.1357G>A (p.Gly453Ser) SNV
Germline		 Chr12:47987086 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553702 rs_2136575582

1 SubmittersRCV001597541
NM_001844.5(COL2A1):c.2014G>T (p.Gly672Cys) SNV
Germline		 Chr12:47983420 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384548024 rs_2136555019

2 SubmittersRCV001665205
NM_001844.5(COL2A1):c.4075-1G>C SNV
Germline		 Chr12:47974332 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384534026 rs_2136506437

3 SubmittersRCV001723311
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter) SNV
Germline		 Chr12:47986428 Pathogenic/Likely pathogenic Condition: not provided
COL2A1-related disorder		 No Assertion Criteria Provided
 CA384552896 rs_2136571484

3 SubmittersRCV001723421RCV004542095
NM_001844.5(COL2A1):c.1023+2T>A SNV
Unknown		 Chr12:47992876 Pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter
 CA384555595 rs_2136604599

1 SubmittersRCV001729973
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser) SNV
Germline		 Chr12:47973439 Conflicting classifications of pathogenicity Spondyloperipheral dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384533132 rs_1400762548

3 SubmittersRCV001730092RCV002539786
NM_001844.5(COL2A1):c.1887+1G>A SNV
Germline		 Chr12:47984545 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384549269 rs_2136561510

2 SubmittersRCV001731124RCV006467804
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr) SNV
Germline		 Chr12:47997632 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384524697 rs_770027510

2 SubmittersRCV001732570
NM_001844.5(COL2A1):c.1969G>T (p.Gly657Cys) SNV
Germline		 Chr12:47983709 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384548465 rs_1269619781

1 SubmittersRCV001732679
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr) SNV
Germline		 Chr12:47992883 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535663 rs_762355724

2 SubmittersRCV001732856
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys) SNV
Germline		 Chr12:47974202 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534519 rs_759583931

2 SubmittersRCV001762785
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys) SNV
Germline		 Chr12:47997891 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535950 rs_762357071

2 SubmittersRCV001762933
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser) SNV
Germline		 Chr12:47980577 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535049 rs_770043048

2 SubmittersRCV001763500
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=) SNV
Germline		 Chr12:47982544 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535168 rs_781062223

2 SubmittersRCV001766873
NM_001844.5(COL2A1):c.1175G>A (p.Arg392His) SNV
Germline		 Chr12:47987657 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535585 rs_201953356

3 SubmittersRCV001767192
NM_001844.5(COL2A1):c.2632A>G (p.Thr878Ala) SNV
Germline		 Chr12:47980056 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA236522855 rs_147760401

3 SubmittersRCV001772722RCV006727348
NM_001844.5(COL2A1):c.175A>G (p.Thr59Ala) SNV
Germline		 Chr12:48000036 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6536081 rs_376641474

2 SubmittersRCV001772731
NM_001844.5(COL2A1):c.466G>A (p.Gly156Arg) SNV
Germline		 Chr12:47997671 Conflicting classifications of pathogenicity Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Conflicting Classifications
 CA384524850 rs_2136626415

3 SubmittersRCV001768713RCV006249763
NM_001844.5(COL2A1):c.953G>T (p.Gly318Val) SNV
Germline		 Chr12:47993474 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384521784 rs_2136607793

1 SubmittersRCV001768946
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser) SNV
Germline		 Chr12:47974688 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534574 rs_200621622

2 SubmittersRCV001760761
NM_001844.5(COL2A1):c.1527+4A>C SNV
Germline		 Chr12:47986332 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA2573053668 rs_2136570708

2 SubmittersRCV001758520
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala) SNV
Germline		 Chr12:47973435 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384533123 rs_1414146646

3 SubmittersRCV001767600RCV002539132
NM_001844.5(COL2A1):c.1975C>T (p.Pro659Ser) SNV
Germline		 Chr12:47983703 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535303 rs_747852608

3 SubmittersRCV001761053RCV005802221
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr) SNV
Germline		 Chr12:47974799 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534593 rs_1555164561

3 SubmittersRCV001757193RCV004611869
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala) SNV
Germline		 Chr12:47980947 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384544985 rs_745794356

2 SubmittersRCV001758343
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala) SNV
Germline		 Chr12:48004308 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA236497899 rs_557340983

2 SubmittersRCV001774296
NM_001844.5(COL2A1):c.342+5G>A SNV
Germline		 Chr12:47998164 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA2573053665 rs_2136629166

2 SubmittersRCV001769044
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln) SNV
Germline		 Chr12:47992900 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA6535670 rs_765231668

3 SubmittersRCV001764069RCV004815626
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser) SNV
Germline		 Chr12:47978728 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA6534983 rs_769590506

3 SubmittersRCV001774719RCV004821316
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser) SNV
Germline		 Chr12:47982874 Likely pathogenic Condition: not provided
Type 2 collagenopathy
Spondyloepiphyseal dysplasia, Stanescu type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384546936 rs_1939173389

3 SubmittersRCV002034501RCV004594588RCV005252119
NM_001844.5(COL2A1):c.2257G>A (p.Gly753Ser) SNV
Germline		 Chr12:47982546 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384546055 rs_2136549071

1 SubmittersRCV001780548
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg) SNV
Germline		 Chr12:47985048 Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia congenita
Spondyloepimetaphyseal dysplasia, Strudwick type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384550654 rs_2136564199

3 SubmittersRCV001787261RCV003444064RCV003679073
NM_001844.5(COL2A1):c.2095G>T (p.Gly699Cys) SNV
Germline		 Chr12:47982946 Pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384547289 rs_2136551691

1 SubmittersRCV001787262
NM_001844.5(COL2A1):c.2671G>A (p.Gly891Ser) SNV
Germline		 Chr12:47980017 Pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384544184 rs_121912879

1 SubmittersRCV001787263
NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys) SNV
Germline		 Chr12:47976901 Pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384539099 rs_2136518773

1 SubmittersRCV001787264
NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg) SNV
Germline		 Chr12:47976540 Pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384537525 rs_2136516744

1 SubmittersRCV001787265
NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu) SNV
Germline		 Chr12:47976006 Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type Criteria Provided
Single Submitter
 CA384537330 rs_2136514291

1 SubmittersRCV001787266
NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg) SNV
Germline		 Chr12:47975971 Pathogenic Spondyloepiphyseal dysplasia congenita
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537268 rs_121912870

2 SubmittersRCV001787267RCV001885207
NM_001844.5(COL2A1):c.620G>T (p.Gly207Val) SNV
Germline		 Chr12:47995909 Likely pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384523945 rs_2136619125

1 SubmittersRCV001787268
NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys) SNV
Germline		 Chr12:47974852 Likely pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384536177 rs_2136508895

1 SubmittersRCV001787269
NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln) SNV
Germline		 Chr12:47974273 Likely pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384533786 rs_2136505985

1 SubmittersRCV001787271
NM_001844.5(COL2A1):c.4317+1G>T SNV
Germline		 Chr12:47974088 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384533388 rs_2136504667

1 SubmittersRCV001787272
NM_001844.5(COL2A1):c.817-1G>A SNV
Germline		 Chr12:47994048 Pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter
 CA384522382 rs_2136610684

1 SubmittersRCV001787273
NM_001844.5(COL2A1):c.4074+1G>A SNV
Germline		 Chr12:47974674 Pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384535267 rs_2136507956

2 SubmittersRCV001787274RCV002541256
NM_001844.5(COL2A1):c.1068+1G>C SNV
Germline		 Chr12:47989760 Pathogenic Kniest dysplasia Criteria Provided
Single Submitter
 CA384555409 rs_2136590070

1 SubmittersRCV001787275
NM_001844.5(COL2A1):c.970-8T>G SNV
Germline		 Chr12:47992939 Likely pathogenic Kniest dysplasia Criteria Provided
Single Submitter
 CA2573053671 rs_1165582049

1 SubmittersRCV001787276
NM_001844.5(COL2A1):c.980G>T (p.Gly327Val) SNV
Germline		 Chr12:47992921 Pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384555681 rs_2136605023

1 SubmittersRCV001787277
NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser) SNV
Germline		 Chr12:47989281 Pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384555397 rs_1423486005

1 SubmittersRCV001787278
NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys) SNV
Germline		 Chr12:47989260 Likely pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter
 CA384555339 rs_2136587685

1 SubmittersRCV001787279
NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg) SNV
Germline		 Chr12:47987637 Pathogenic Spondyloepiphyseal dysplasia congenita
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384554438 rs_2136579152

2 SubmittersRCV001787280RCV003708611
NM_001844.5(COL2A1):c.1266+5G>C SNV
Germline		 Chr12:47987264 Likely pathogenic Kniest dysplasia Criteria Provided
Single Submitter
 CA2573053670 rs_1064794958

1 SubmittersRCV001787281
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg) SNV
Germline		 Chr12:47987095 Pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type Criteria Provided
Single Submitter
 CA384553744 rs_2136575653

1 SubmittersRCV001787282
NM_001844.5(COL2A1):c.1122+2T>C SNV
Germline		 Chr12:47989226 Likely pathogenic COL2A1-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384555212 rs_1939584878

2 SubmittersRCV004528538RCV005095156
NM_001844.5(COL2A1):c.1169G>T (p.Gly390Val) SNV
Germline		 Chr12:47987663 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554528 rs_2136579397

1 SubmittersRCV001811798
NM_001844.5(COL2A1):c.2419G>A (p.Gly807Arg) SNV
Germline		 Chr12:47981387 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545291 rs_2136542141

1 SubmittersRCV001812543
NM_001844.5(COL2A1):c.1250G>T (p.Gly417Val) SNV
Germline		 Chr12:47987285 Pathogenic Kniest dysplasia Criteria Provided
Single Submitter
 CA384554183 rs_2136577094

1 SubmittersRCV001806419
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp) SNV
Germline		 Chr12:47976069 Likely pathogenic Platyspondylic dysplasia, Torrance type
Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537457 rs_1476546104

3 SubmittersRCV001808048RCV002541465RCV004536325
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu) SNV
Unknown		 Chr12:47987303 Likely pathogenic Achondrogenesis type II No Assertion Criteria Provided
 CA384554252 rs_2136577158

1 SubmittersRCV001808940
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) SNV
Germline		 Chr12:47977149 Pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384539779 rs_2136520087

3 SubmittersRCV001814855RCV001869629
NM_001844.5(COL2A1):c.2095G>C (p.Gly699Arg) SNV
Germline		 Chr12:47982946 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547286 rs_2136551691

1 SubmittersRCV001815739
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp) SNV
Germline		 Chr12:47982927 Likely pathogenic Achondrogenesis type II
COL2A1-related disorder		 No Assertion Criteria Provided
 CA384547176 rs_2136551606

2 SubmittersRCV001822977RCV004728836
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser) SNV
Germline		 Chr12:47976820 Pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Single Submitter
 CA384538658 rs_2136518157

2 SubmittersRCV001823335RCV004542134
NM_001844.5(COL2A1):c.3887-2A>G SNV
Germline		 Chr12:47974864 Likely pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter
 CA384536236 rs_2136508967

1 SubmittersRCV002271681
NM_001844.5(COL2A1):c.2780G>T (p.Gly927Val) SNV
Germline		 Chr12:47978712 Pathogenic Spondyloepiphyseal dysplasia congenita No Assertion Criteria Provided
 CA384542382 rs_2540113631

1 SubmittersRCV002282590
NM_001844.5(COL2A1):c.3578C>T (p.Ser1193Leu) SNV
Germline		 Chr12:47975982 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534703 rs_755514365

2 SubmittersRCV001922046RCV005542529
NM_001844.5(COL2A1):c.1681-2A>G SNV
Germline		 Chr12:47985589 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384551256 rs_2136566722

1 SubmittersRCV002010106
NM_001844.5(COL2A1):c.1887+1G>T SNV
Germline		 Chr12:47984545 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384549266 rs_2136561510

1 SubmittersRCV001988783
NM_001844.5(COL2A1):c.1142G>C (p.Gly381Ala) SNV
Germline		 Chr12:47987690 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554628 rs_1323542030

1 SubmittersRCV001988889
NM_001844.5(COL2A1):c.3188C>T (p.Ala1063Val) SNV
Germline		 Chr12:47977405 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA236521006 rs_978921089

2 SubmittersRCV001919066RCV005804358
NM_001844.5(COL2A1):c.988G>A (p.Gly330Ser) SNV
Germline		 Chr12:47992913 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555662 rs_2136604937

1 SubmittersRCV002038983
NM_001844.5(COL2A1):c.728G>T (p.Gly243Val) SNV
Germline		 Chr12:47995289 Likely pathogenic COL2A1-related disorder
Condition: not provided		 Criteria Provided
Single Submitter
 CA384523337 rs_2136616399

2 SubmittersRCV006249192RCV002039129
NM_001844.5(COL2A1):c.817-2A>C SNV
Germline		 Chr12:47994049 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522387 rs_2136610697

1 SubmittersRCV002034006
NM_001844.5(COL2A1):c.1738G>T (p.Ala580Ser) SNV
Germline		 Chr12:47985090 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535384 rs_146604807

2 SubmittersRCV001897673
NM_001844.5(COL2A1):c.2245C>T (p.Gln749Ter) SNV
Germline		 Chr12:47982558 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384546120 rs_2136549115

1 SubmittersRCV001949166
NM_001844.5(COL2A1):c.2392G>A (p.Gly798Ser) SNV
Germline		 Chr12:47981793 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545453 rs_2136544686

1 SubmittersRCV002038912
NM_001844.5(COL2A1):c.430-7T>A SNV
Germline		 Chr12:47997714 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2573148727 rs_2136626631

1 SubmittersRCV001979424
NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile) SNV
Germline		 Chr12:47979531 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535016 rs_759822181

2 SubmittersRCV001979459
NM_001844.5(COL2A1):c.2382T>A (p.Pro794=) SNV
Germline		 Chr12:47981803 Conflicting classifications of pathogenicity Condition: not provided
not specified
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA236523955 rs_373352689

3 SubmittersRCV001892770RCV004690156RCV004538576
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met) SNV
Germline		 Chr12:47978038 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534902 rs_770907704

2 SubmittersRCV001970401
NM_001844.5(COL2A1):c.1862G>T (p.Gly621Val) SNV
Germline		 Chr12:47984571 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384549406 rs_1939281881

1 SubmittersRCV002028504
NM_001844.5(COL2A1):c.2711G>A (p.Arg904His) SNV
Germline		 Chr12:47979533 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535018 rs_201544025

2 SubmittersRCV002036664
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) SNV
Germline		 Chr12:47985071 Conflicting classifications of pathogenicity Condition: not provided
16 conditions
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535381 rs_371440147

3 SubmittersRCV001881342RCV002482673RCV005804325
NM_001844.5(COL2A1):c.4115A>G (p.Asn1372Ser) SNV
Germline		 Chr12:47974291 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534533 rs_771399441

2 SubmittersRCV001881353
NM_001844.5(COL2A1):c.1996-1G>C SNV
Germline		 Chr12:47983439 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384548164 rs_886041935

1 SubmittersRCV001999748
NM_001844.5(COL2A1):c.763G>A (p.Gly255Ser) SNV
Germline		 Chr12:47994477 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522513 rs_2136612683

1 SubmittersRCV001908313
NM_001844.5(COL2A1):c.3283G>T (p.Gly1095Cys) SNV
Germline		 Chr12:47977146 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539762 rs_2136520078

1 SubmittersRCV001908379
NM_001844.5(COL2A1):c.262A>G (p.Ile88Val) SNV
Germline		 Chr12:47999949 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6536065 rs_760745824

4 SubmittersRCV001921095RCV004529047RCV005542572
NM_001844.5(COL2A1):c.1348G>A (p.Gly450Ser) SNV
Germline		 Chr12:47987095 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553747 rs_2136575653

1 SubmittersRCV001969991
NM_001844.5(COL2A1):c.2627G>A (p.Gly876Asp) SNV
Germline		 Chr12:47980061 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544322 rs_2136535158

1 SubmittersRCV002014379
NM_001844.5(COL2A1):c.542C>T (p.Ala181Val) SNV
Germline		 Chr12:47996615 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384524269 rs_2136622365

1 SubmittersRCV002041328
NM_001844.5(COL2A1):c.3165+1G>T SNV
Germline		 Chr12:47977599 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540491 rs_767701661

1 SubmittersRCV001970092
NM_001844.5(COL2A1):c.3212G>A (p.Gly1071Glu) SNV
Germline		 Chr12:47977381 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540320 rs_2136521542

1 SubmittersRCV002025446
NM_001844.5(COL2A1):c.1024-2A>G SNV
Germline		 Chr12:47989807 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555506 rs_2136590607

1 SubmittersRCV001939321
NM_001844.5(COL2A1):c.3130G>A (p.Gly1044Ser) SNV
Germline		 Chr12:47977635 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540560 rs_2136522924

1 SubmittersRCV002031506
NM_001844.5(COL2A1):c.1699G>A (p.Gly567Ser) SNV
Germline		 Chr12:47985569 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384551127 rs_2136566584

1 SubmittersRCV002031559
NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys) SNV
Germline		 Chr12:47989787 Likely pathogenic Stickler syndrome, type I, nonsyndromic ocular
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384555459 rs_2136590405

2 SubmittersRCV005253994RCV001966943
NM_001844.5(COL2A1):c.1726G>A (p.Gly576Ser) SNV
Germline		 Chr12:47985542 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384550958 rs_2136566494

1 SubmittersRCV002040181
NM_001844.5(COL2A1):c.2050-1G>T SNV
Germline		 Chr12:47983138 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547694 rs_2136552988

1 SubmittersRCV001940572
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp) SNV
Germline		 Chr12:47989786 Pathogenic/Likely pathogenic Condition: not provided
Kniest dysplasia
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepimetaphyseal dysplasia, Strudwick type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384555457 rs_2136590361

4 SubmittersRCV002041834RCV002243470RCV006697007
NM_001844.5(COL2A1):c.619G>C (p.Gly207Arg) SNV
Germline		 Chr12:47995910 Pathogenic Condition: not provided
Spondyloepiphyseal dysplasia with metatarsal shortening		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384523950 rs_869312907

2 SubmittersRCV001908812RCV005253929
NM_001844.5(COL2A1):c.781G>T (p.Gly261Ter) SNV
Germline		 Chr12:47994459 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522467 rs_2136612635

1 SubmittersRCV001953866
NM_001844.5(COL2A1):c.3149G>T (p.Gly1050Val) SNV
Germline		 Chr12:47977616 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540522 rs_1555165242

1 SubmittersRCV002047001
NM_001844.5(COL2A1):c.2129C>T (p.Pro710Leu) SNV
Germline		 Chr12:47982912 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535215 rs_747446924

2 SubmittersRCV001977187
NM_001844.5(COL2A1):c.2023G>C (p.Gly675Arg) SNV
Germline		 Chr12:47983411 Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384547962 rs_1423422339

2 SubmittersRCV002013298RCV006705670
NM_001844.5(COL2A1):c.2564G>C (p.Gly855Ala) SNV
Germline		 Chr12:47980615 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544460 rs_2136537795

1 SubmittersRCV002017441
NM_001844.5(COL2A1):c.3526G>A (p.Gly1176Ser) SNV
Germline		 Chr12:47976034 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537390 rs_2136514418

1 SubmittersRCV001882153
NM_001844.5(COL2A1):c.1960G>A (p.Gly654Ser) SNV
Germline		 Chr12:47983718 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384548528 rs_1322543333

1 SubmittersRCV002005483
NM_001844.5(COL2A1):c.816+6C>T SNV
Germline		 Chr12:47994418 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535775 rs_766892635

3 SubmittersRCV001971224RCV004538701
NM_001844.5(COL2A1):c.430-1G>A SNV
Germline		 Chr12:47997708 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384524922 rs_2136626600

1 SubmittersRCV001971269
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) SNV
Germline		 Chr12:47986350 Conflicting classifications of pathogenicity Condition: not provided
Spondyloepiphyseal dysplasia congenita
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA236527633 rs_865903887

3 SubmittersRCV001945651RCV003444066RCV003339826
NM_001844.5(COL2A1):c.1231G>A (p.Gly411Arg) SNV
Germline		 Chr12:47987304 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554257 rs_2136577175

1 SubmittersRCV001971550
NM_001844.5(COL2A1):c.4169C>T (p.Thr1390Ile) SNV
Germline		 Chr12:47974237 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384533714 rs_1161207534

2 SubmittersRCV001884901
NM_001844.5(COL2A1):c.3598-2A>G SNV
Germline		 Chr12:47975607 Pathogenic/Likely pathogenic Condition: not provided
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537245 rs_2136512643

2 SubmittersRCV001980282RCV006442487
NM_001844.5(COL2A1):c.271A>G (p.Thr91Ala) SNV
Germline		 Chr12:47999940 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384525846 rs_1252498034

2 SubmittersRCV002041192
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser) SNV
Germline		 Chr12:47975566 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA236517361 rs_886626700

4 SubmittersRCV002039984RCV004542141RCV004980764
NM_001844.5(COL2A1):c.3886+1G>A SNV
Germline		 Chr12:47975316 Pathogenic Condition: not provided
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384536261 rs_2136510769

2 SubmittersRCV002000153RCV006437107
NM_001844.5(COL2A1):c.1995+1G>A SNV
Germline		 Chr12:47983682 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384548276 rs_2136556600

1 SubmittersRCV002037847
NM_001844.5(COL2A1):c.870+1G>A SNV
Germline		 Chr12:47993993 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384522271 rs_2136610457

2 SubmittersRCV002000166
NM_001844.5(COL2A1):c.2137C>T (p.Gln713Ter) SNV
Germline		 Chr12:47982904 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547051 rs_2136551414

1 SubmittersRCV002037889
NM_001844.5(COL2A1):c.1995+1G>T SNV
Germline		 Chr12:47983682 Pathogenic/Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384548272 rs_2136556600

2 SubmittersRCV002035245RCV004529065
NM_001844.5(COL2A1):c.2902G>T (p.Glu968Ter) SNV
Germline		 Chr12:47978392 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384541587 rs_144572461

1 SubmittersRCV001993183
NM_001844.5(COL2A1):c.1501G>A (p.Gly501Arg) SNV
Germline		 Chr12:47986362 Pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Single Submitter
 CA384552514 rs_866502805

2 SubmittersRCV001893544RCV004728915
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr) SNV
Germline		 Chr12:47996577 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535880 rs_371445823

4 SubmittersRCV002000324RCV002276972RCV004734378
NM_001844.5(COL2A1):c.3214C>G (p.Pro1072Ala) SNV
Germline		 Chr12:47977379 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA236520985 rs_955829877

2 SubmittersRCV001876347RCV004611899
NM_001844.5(COL2A1):c.2762G>A (p.Gly921Asp) SNV
Germline		 Chr12:47978730 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384542513 rs_2136528442

1 SubmittersRCV002018884
NM_001844.5(COL2A1):c.610G>C (p.Gly204Arg) SNV
Germline		 Chr12:47995919 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523988 rs_2136619174

1 SubmittersRCV002004108
NM_001844.5(COL2A1):c.926G>A (p.Gly309Asp) SNV
Germline		 Chr12:47993501 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384521840 rs_2136608011

1 SubmittersRCV001976754
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp) SNV
Germline		 Chr12:47977113 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534797 rs_374036874

2 SubmittersRCV002025226
NM_001844.5(COL2A1):c.655-2A>C SNV
Germline		 Chr12:47995765 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523811 rs_2136618395

1 SubmittersRCV002009662
NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg) SNV
Germline		 Chr12:47987277 Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA236528006 rs_867799325

2 SubmittersRCV002037279RCV004529024
NM_001844.5(COL2A1):c.2275G>C (p.Gly759Arg) SNV
Germline		 Chr12:47982528 Pathogenic Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384545980 rs_2136548994

2 SubmittersRCV001939515RCV002272538
NM_001844.5(COL2A1):c.3328G>C (p.Gly1110Arg) SNV
Germline		 Chr12:47976919 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539266 rs_1938737050

1 SubmittersRCV001994450
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His) SNV
Germline		 Chr12:47976849 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534773 rs_776292672

3 SubmittersRCV002011499
NM_001844.5(COL2A1):c.3793C>T (p.Gln1265Ter) SNV
Germline		 Chr12:47975410 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384536679 rs_2136511304

1 SubmittersRCV001876733
NM_001844.5(COL2A1):c.3400G>A (p.Gly1134Ser) SNV
Germline		 Chr12:47976847 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384538793 rs_2136518300

1 SubmittersRCV001963858
NM_001844.5(COL2A1):c.85+1G>A SNV
Germline		 Chr12:48004236 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384528131 rs_727503882

1 SubmittersRCV002012772
NM_001844.5(COL2A1):c.1312G>T (p.Gly438Cys) SNV
Germline		 Chr12:47987131 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553909 rs_2136575877

1 SubmittersRCV002009434
NM_001844.5(COL2A1):c.3597+1G>C SNV
Germline		 Chr12:47975962 Pathogenic Condition: not provided
COL2A1-related disorder
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537250 rs_1555164874

3 SubmittersRCV002002522RCV004538681RCV005250220
NM_001844.5(COL2A1):c.3969C>A (p.Cys1323Ter) SNV
Germline		 Chr12:47974780 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384535833 rs_577585827

1 SubmittersRCV002037956
NM_001844.5(COL2A1):c.267C>A (p.Cys89Ter) SNV
Germline		 Chr12:47999944 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525872 rs_2136636832

1 SubmittersRCV001960525
NM_001844.5(COL2A1):c.2051G>T (p.Gly684Val) SNV
Germline		 Chr12:47983136 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547679 rs_2136552948

1 SubmittersRCV002040531
NM_001844.5(COL2A1):c.3365G>A (p.Gly1122Glu) SNV
Germline		 Chr12:47976882 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539020 rs_1592199342

1 SubmittersRCV002041602
NM_001844.5(COL2A1):c.3329G>C (p.Gly1110Ala) SNV
Germline		 Chr12:47976918 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539248 rs_2136518845

1 SubmittersRCV002038033
NM_001844.5(COL2A1):c.2168G>A (p.Gly723Asp) SNV
Germline		 Chr12:47982873 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384546930 rs_2136551055

1 SubmittersRCV002020730
NM_001844.5(COL2A1):c.1241G>T (p.Gly414Val) SNV
Germline		 Chr12:47987294 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554215 rs_2136577123

1 SubmittersRCV001951060
NM_001844.5(COL2A1):c.1123-1G>C SNV
Germline		 Chr12:47987710 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554670 rs_1565684864

1 SubmittersRCV002003322
NM_001844.5(COL2A1):c.1853G>A (p.Gly618Asp) SNV
Germline		 Chr12:47984580 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384549476 rs_1480620991

1 SubmittersRCV002036219
NM_001844.5(COL2A1):c.874T>A (p.Tyr292Asn) SNV
Germline		 Chr12:47993859 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384522245 rs_1291318209

2 SubmittersRCV001925946
NM_001844.5(COL2A1):c.3257G>A (p.Gly1086Glu) SNV
Germline		 Chr12:47977336 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384540071 rs_2136521131

2 SubmittersRCV002049151
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) SNV
Germline		 Chr12:47978697 Conflicting classifications of pathogenicity Condition: not provided
16 conditions
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534979 rs_570320774

4 SubmittersRCV002031900RCV002486789RCV004976204
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu) SNV
Germline		 Chr12:47980570 Pathogenic/Likely pathogenic Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384544367 rs_886041429

2 SubmittersRCV002003098RCV002246638
NM_001844.5(COL2A1):c.342+1G>A SNV
Germline		 Chr12:47998168 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525278 rs_2136629179

1 SubmittersRCV001956233
NM_001844.5(COL2A1):c.2068G>A (p.Gly690Arg) SNV
Germline		 Chr12:47983119 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547543 rs_1321119554

1 SubmittersRCV001972813
NM_001844.5(COL2A1):c.1781G>A (p.Gly594Glu) SNV
Germline		 Chr12:47985047 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384550647 rs_2136564183

1 SubmittersRCV001956228
NM_001844.5(COL2A1):c.1467C>T (p.Gly489=) SNV
Germline		 Chr12:47986396 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA479471416 rs_2136571245

1 SubmittersRCV002000864
NM_001844.5(COL2A1):c.460G>T (p.Glu154Ter) SNV
Germline		 Chr12:47997677 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384524860 rs_1228018976

1 SubmittersRCV001972568
NM_001844.5(COL2A1):c.3436-1G>A SNV
Germline		 Chr12:47976568 Pathogenic Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537582 rs_2136516942

2 SubmittersRCV002023134RCV004565180
NM_001844.5(COL2A1):c.654+1G>A SNV
Germline		 Chr12:47995874 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384523824 rs_2136618972

2 SubmittersRCV001951352
NM_001844.5(COL2A1):c.1942-2A>G SNV
Germline		 Chr12:47983738 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384548647 rs_2136556938

1 SubmittersRCV002006494
NM_001844.5(COL2A1):c.4358G>A (p.Arg1453Gln) SNV
Germline		 Chr12:47973513 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534470 rs_770494878

2 SubmittersRCV002049299RCV004611891
NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile) SNV
Germline		 Chr12:47982154 Conflicting classifications of pathogenicity Condition: not provided
15 conditions		 Criteria Provided
Conflicting Classifications
 CA6535144 rs_368583168

3 SubmittersRCV001940473RCV005006232
NM_001844.5(COL2A1):c.835G>T (p.Gly279Ter) SNV
Germline		 Chr12:47994029 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522343 rs_2136610618

1 SubmittersRCV001956498
NM_001844.5(COL2A1):c.3709C>T (p.Gln1237Ter) SNV
Germline		 Chr12:47975494 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384536860 rs_2136511934

1 SubmittersRCV001975117
NM_001844.5(COL2A1):c.1365+1G>A SNV
Germline		 Chr12:47987077 Pathogenic/Likely pathogenic Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384553672 rs_2136575516

2 SubmittersRCV002003635RCV006646193
NM_001844.5(COL2A1):c.1618G>A (p.Gly540Ser) SNV
Germline		 Chr12:47985790 Likely pathogenic Condition: not provided
15 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384551630 rs_2136567996

2 SubmittersRCV002026787RCV005433123
NM_001844.5(COL2A1):c.917G>A (p.Gly306Asp) SNV
Germline		 Chr12:47993816 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384521870 rs_2136609413

2 SubmittersRCV001863654
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val) SNV
Germline		 Chr12:47975551 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534677 rs_374450416

2 SubmittersRCV002001452
NM_001844.5(COL2A1):c.2078G>A (p.Gly693Asp) SNV
Germline		 Chr12:47983109 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547480 rs_2136552735

1 SubmittersRCV002026662
NM_001844.5(COL2A1):c.4317+2T>G SNV
Germline		 Chr12:47974087 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533385 rs_2136504658

1 SubmittersRCV001942593
NM_001844.5(COL2A1):c.1819C>T (p.Pro607Ser) SNV
Germline		 Chr12:47985009 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535374 rs_763003390

2 SubmittersRCV001968427
NM_001844.5(COL2A1):c.1132G>C (p.Gly378Arg) SNV
Germline		 Chr12:47987700 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554648 rs_2136579628

1 SubmittersRCV001986450
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His) SNV
Germline		 Chr12:47986382 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535471 rs_766574999

3 SubmittersRCV001888025
NM_001844.5(COL2A1):c.135T>A (p.Asp45Glu) SNV
Germline		 Chr12:48000076 Conflicting classifications of pathogenicity Condition: not provided
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6536089 rs_375778172

3 SubmittersRCV001887982RCV004526151RCV005804302
NM_001844.5(COL2A1):c.972T>C (p.Gly324=) SNV
Germline		 Chr12:47992929 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA479479239 rs_2136605039

2 SubmittersRCV002075837RCV005232832
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=) SNV
Germline		 Chr12:47983096 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder		 Criteria Provided
Conflicting Classifications
 CA6535248 rs_762603514

2 SubmittersRCV002203472RCV002277040
NM_001844.5(COL2A1):c.3600T>G (p.Gly1200=) SNV
Germline		 Chr12:47975603 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA479697119 rs_1284336050

2 SubmittersRCV002203180
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln) SNV
Germline		 Chr12:47978014 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6534898 rs_201956851

2 SubmittersRCV002158903
NM_001844.5(COL2A1):c.3334C>T (p.Gln1112Ter) SNV
Germline		 Chr12:47976913 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384539214 rs_2136518839

2 SubmittersRCV002221741
NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser) SNV
Germline		 Chr12:47985920 Likely pathogenic 6 conditions Criteria Provided
Single Submitter
 CA384551975 rs_2136568585

1 SubmittersRCV002222289
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter) SNV
Germline		 Chr12:47987277 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384554157 rs_867799325

1 SubmittersRCV002471749
NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys) SNV
Germline		 Chr12:47978299 Likely pathogenic Achondrogenesis type II Criteria Provided
Single Submitter
 CA384541117 rs_2136526244

1 SubmittersRCV002227895
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) SNV
Germline		 Chr12:47976850 Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia congenita
8 conditions
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384538801 rs_1938732355

3 SubmittersRCV002227901RCV003093905RCV003101301
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly) SNV
Germline		 Chr12:47983723 Likely pathogenic Maffucci syndrome Criteria Provided
Single Submitter
 CA384548546 rs_2136556852

1 SubmittersRCV002227902
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp) SNV
Germline		 Chr12:47980660 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384544556 rs_2136538046

1 SubmittersRCV002249000
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp) SNV
Germline		 Chr12:47985762 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384551516 rs_2136567807

1 SubmittersRCV002249002
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu) SNV
Germline		 Chr12:47986379 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384552620 rs_2136571080

2 SubmittersRCV002249003RCV005095815
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His) SNV
Germline		 Chr12:47974235 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384533712 rs_2136505595

1 SubmittersRCV002249377
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg) SNV
Germline		 Chr12:47986371 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384552567 rs_2136571005

1 SubmittersRCV002249379
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val) SNV
Germline		 Chr12:47995280 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384523264 rs_2136616311

1 SubmittersRCV002249380
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) SNV
Germline		 Chr12:47976548 Conflicting classifications of pathogenicity not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384537541 rs_2136516779

2 SubmittersRCV002247095RCV003560890
NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu) SNV
Germline		 Chr12:47986424 Pathogenic/Likely pathogenic Platyspondylic dysplasia, Torrance type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384552871 rs_2136571455

3 SubmittersRCV002251183RCV003094084
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val) SNV
Germline		 Chr12:47983726 Likely pathogenic Achondrogenesis type II No Assertion Criteria Provided
 CA384548567 rs_1447463543

1 SubmittersRCV002260533
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser) SNV
Germline		 Chr12:47978353 Pathogenic Achondrogenesis type II Criteria Provided
Single Submitter
 CA384541366 rs_2136526515

1 SubmittersRCV002273087
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met) SNV
Germline		 Chr12:47973482 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384533226 rs_1224083058

3 SubmittersRCV002273642RCV006727639
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser) SNV
Germline		 Chr12:47982115 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384545636 rs_2136546628

2 SubmittersRCV002275772
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala) SNV
Germline		 Chr12:47980633 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384544500 rs_1939004215

1 SubmittersRCV002278691
NM_001844.5(COL2A1):c.2680-1G>A SNV
Germline		 Chr12:47979565 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384544021 rs_2136532474

1 SubmittersRCV002278692
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg) SNV
Germline		 Chr12:47978344 Likely pathogenic Connective tissue disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384541312 rs_2136526413

2 SubmittersRCV002278693RCV005096007
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys) SNV
Germline		 Chr12:47978099 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384540933 rs_2136525233

1 SubmittersRCV002278694
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp) SNV
Germline		 Chr12:47978071 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384540805 rs_2136525107

1 SubmittersRCV002278695
NM_001844.5(COL2A1):c.3598-5T>C SNV
Germline		 Chr12:47975610 Conflicting classifications of pathogenicity Connective tissue disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA689464021 rs_1441411760

2 SubmittersRCV002278696RCV003660918
NM_001844.5(COL2A1):c.4317+1G>A SNV
Germline		 Chr12:47974088 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384533390 rs_2136504667

1 SubmittersRCV002278697
NM_001844.5(COL2A1):c.1267-2A>G SNV
Germline		 Chr12:47987178 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384554088 rs_2136576254

1 SubmittersRCV002278826
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser) SNV
Germline		 Chr12:47986443 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384552980 rs_2136571594

1 SubmittersRCV002278830
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu) SNV
Germline		 Chr12:47985735 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384551339 rs_2136567637

1 SubmittersRCV002278844
NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu) SNV
Germline		 Chr12:47984571 Pathogenic/Likely pathogenic Connective tissue disorder
Avascular necrosis of femoral head, primary, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384549411 rs_1939281881

3 SubmittersRCV002278845RCV003444024RCV006470410
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser) SNV
Germline		 Chr12:47983137 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384547692 rs_1231988113

1 SubmittersRCV002278846
NM_001844.5(COL2A1):c.2248G>A (p.Gly750Arg) SNV
Germline		 Chr12:47982555 Pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384546104 rs_2136549103

1 SubmittersRCV002278848
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp) SNV
Germline		 Chr12:47982141 Likely pathogenic Connective tissue disorder Criteria Provided
Single Submitter
 CA384545733 rs_2136546742

1 SubmittersRCV002278849
NM_001844.5(COL2A1):c.610-2A>T SNV
Germline		 Chr12:47995921 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384523999 rs_2540175543

1 SubmittersRCV002283666
NM_001844.5(COL2A1):c.2895+1G>C SNV
Germline		 Chr12:47978596 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384541711 rs_2540113039

1 SubmittersRCV002286619
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg) SNV
Germline		 Chr12:47980598 Likely pathogenic Spondyloperipheral dysplasia
Type 2 collagenopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384544422 rs_2540122331

2 SubmittersRCV002287215RCV005401955
NM_001844.5(COL2A1):c.3463G>A (p.Gly1155Ser) SNV
Germline		 Chr12:47976540 Pathogenic/Likely pathogenic Spondyloperipheral dysplasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384537526 rs_2136516744

2 SubmittersRCV002287304RCV005096055
NM_001844.5(COL2A1):c.2104G>A (p.Gly702Ser) SNV
Germline		 Chr12:47982937 Likely pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384547235 rs_2540136191

1 SubmittersRCV002290047
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter) SNV
Germline		 Chr12:47983712 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384548497 rs_2540139953

2 SubmittersRCV002290174RCV006470450
NM_001844.5(COL2A1):c.429+2T>G SNV
Germline		 Chr12:47997869 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384524928 rs_2540181315

1 SubmittersRCV002290202
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter) SNV
Germline		 Chr12:47997912 Pathogenic/Likely pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384525025 rs_375448469

2 SubmittersRCV002290288RCV005096069
NM_001844.5(COL2A1):c.293-2A>T SNV
Germline		 Chr12:47998433 Likely pathogenic Stickler syndrome type 1 No Assertion Criteria Provided
 CA384525607 rs_2540183621

1 SubmittersRCV002291186
NM_001844.5(COL2A1):c.1555G>A (p.Gly519Ser) SNV
Germline		 Chr12:47985938 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384552079 rs_1340468176

2 SubmittersRCV002302617
NM_001844.5(COL2A1):c.1420-1G>A SNV
Germline		 Chr12:47986444 Pathogenic Stickler syndrome, type I, nonsyndromic ocular
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384552983 rs_2540149390

2 SubmittersRCV002466863RCV002571405
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter) SNV
Germline		 Chr12:47986858 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384553266 rs_2540150852

1 SubmittersRCV002471635
NM_001844.5(COL2A1):c.925-1G>A SNV
Germline		 Chr12:47993503 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384521846 rs_2540167332

1 SubmittersRCV002471691
NM_001844.5(COL2A1):c.2625+2T>C SNV
Germline		 Chr12:47980552 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA384544333 rs_2540121985

2 SubmittersRCV002471804
NM_001844.5(COL2A1):c.3617G>C (p.Gly1206Ala) SNV
Germline		 Chr12:47975586 Pathogenic Type 2 collagenopathy Criteria Provided
Single Submitter
 CA384537183 rs_2540100894

1 SubmittersRCV002471810
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter) SNV
Germline		 Chr12:47996592 Pathogenic Stickler syndrome, type I, nonsyndromic ocular
Stickler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384524217 rs_2540177721

2 SubmittersRCV002471956RCV006442803
NM_001844.5(COL2A1):c.1527+1G>A SNV
Germline		 Chr12:47986335 Likely pathogenic Stickler syndrome, type I, nonsyndromic ocular
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384552350 rs_2540148810

2 SubmittersRCV002472045RCV005098458
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=) SNV
Germline		 Chr12:47974744 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA479450822 rs_2540097285

2 SubmittersRCV002508664
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn) SNV
Germline		 Chr12:47977341 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
15 conditions		 Criteria Provided
Conflicting Classifications
 CA6534828 rs_756125516

4 SubmittersRCV002510120RCV002574727RCV005008603
NM_001844.5(COL2A1):c.2841A>C (p.Gln947His) SNV
Germline		 Chr12:47978651 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6534973 rs_750729151

2 SubmittersRCV003076926RCV004614331
NM_001844.5(COL2A1):c.3969C>G (p.Cys1323Trp) SNV
Germline		 Chr12:47974780 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384535825 rs_577585827

1 SubmittersRCV003037447
NM_001844.5(COL2A1):c.3364G>A (p.Gly1122Arg) SNV
Germline		 Chr12:47976883 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539028 rs_2540105848

1 SubmittersRCV003062492
NM_001844.5(COL2A1):c.3111+1G>T SNV
Germline		 Chr12:47978009 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540609 rs_2540110308

1 SubmittersRCV003062494
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp) SNV
Germline		 Chr12:47980579 Likely pathogenic Condition: not provided
Platyspondylic dysplasia, Torrance type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384544381 rs_886042849

2 SubmittersRCV003062498RCV003314051
NM_001844.5(COL2A1):c.2312G>C (p.Gly771Ala) SNV
Germline		 Chr12:47982150 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545771 rs_2540132104

1 SubmittersRCV003058375
NM_001844.5(COL2A1):c.2177G>A (p.Gly726Asp) SNV
Germline		 Chr12:47982864 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384546893 rs_2540135722

1 SubmittersRCV003037450
NM_001844.5(COL2A1):c.2094+1G>A SNV
Germline		 Chr12:47983092 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547383 rs_2136552560

1 SubmittersRCV003037451
NM_001844.5(COL2A1):c.2050G>C (p.Gly684Arg) SNV
Germline		 Chr12:47983137 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547689 rs_1231988113

1 SubmittersRCV003041148
NM_001844.5(COL2A1):c.1681G>A (p.Gly561Ser) SNV
Germline		 Chr12:47985587 Pathogenic/Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384551238 rs_2540146311

2 SubmittersRCV003062499RCV006705764
NM_001844.5(COL2A1):c.1475G>A (p.Gly492Asp) SNV
Germline		 Chr12:47986388 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384552651 rs_121912881

2 SubmittersRCV003062500
NM_001844.5(COL2A1):c.1366-1G>C SNV
Germline		 Chr12:47986889 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553457 rs_2136574259

1 SubmittersRCV003062503
NM_001844.5(COL2A1):c.1106G>A (p.Gly369Asp) SNV
Germline		 Chr12:47989244 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555280 rs_1565686236

1 SubmittersRCV003062504
NM_001844.5(COL2A1):c.1069-2A>G SNV
Germline		 Chr12:47989283 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555402 rs_2540157602

1 SubmittersRCV003058377
NM_001844.5(COL2A1):c.827G>A (p.Gly276Asp) SNV
Germline		 Chr12:47994037 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522362 rs_2540169164

1 SubmittersRCV003041151
NM_001844.5(COL2A1):c.817-1G>C SNV
Germline		 Chr12:47994048 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522383 rs_2136610684

1 SubmittersRCV003041152
NM_001844.5(COL2A1):c.656G>A (p.Gly219Glu) SNV
Germline		 Chr12:47995762 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523802 rs_2540174681

1 SubmittersRCV003062505
NM_001844.5(COL2A1):c.123T>A (p.Tyr41Ter) SNV
Germline		 Chr12:48000088 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384526646 rs_1226870134

1 SubmittersRCV003062507
NM_001844.5(COL2A1):c.1043G>T (p.Gly348Val) SNV
Germline		 Chr12:47989786 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555455 rs_2136590361

1 SubmittersRCV003079143
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu) SNV
Germline		 Chr12:47986361 Likely pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter
 CA384552504 rs_1455304547

1 SubmittersRCV002512508
NM_001844.5(COL2A1):c.1999C>A (p.Leu667Ile) SNV
Germline		 Chr12:47983435 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535284 rs_121912885

2 SubmittersRCV002582761RCV004064389
NM_001844.5(COL2A1):c.4150G>A (p.Glu1384Lys) SNV
Germline		 Chr12:47974256 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA384533761 rs_1200816320

3 SubmittersRCV002608689RCV002608690RCV004817063
NM_001844.5(COL2A1):c.785A>G (p.Lys262Arg) SNV
Germline		 Chr12:47994455 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Stickler syndrome, type I, nonsyndromic ocular		 Criteria Provided
Conflicting Classifications
 CA6535783 rs_769679774

3 SubmittersRCV002590171RCV004065618RCV005869871
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser) SNV
Germline		 Chr12:47989272 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant COL2A1-related disorders
Fetal anomalies with a likely genetic cause		 Criteria Provided
Conflicting Classifications
 CA6535610 rs_757504416

4 SubmittersRCV002617942RCV006695720RCV006696973
NM_001844.5(COL2A1):c.1480C>T (p.Arg494Cys) SNV
Germline		 Chr12:47986383 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA384552633 rs_1353156898

2 SubmittersRCV002635351RCV005869882
NM_001844.5(COL2A1):c.2563G>A (p.Gly855Ser) SNV
Germline		 Chr12:47980616 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384544462 rs_1193507525

2 SubmittersRCV002649449
NM_001844.5(COL2A1):c.3686G>C (p.Arg1229Thr) SNV
Germline		 Chr12:47975517 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA236517236 rs_776705338

2 SubmittersRCV002666589RCV006373006
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu) SNV
Germline		 Chr12:47996555 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA384524095 rs_1203369669

2 SubmittersRCV002717097
NM_001844.5(COL2A1):c.2734G>A (p.Gly912Ser) SNV
Germline		 Chr12:47978758 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384543539 rs_2540113868

1 SubmittersRCV002791623
NM_001844.5(COL2A1):c.4303A>T (p.Lys1435Ter) SNV
Germline		 Chr12:47974103 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533420 rs_1293471595

1 SubmittersRCV002796412
NM_001844.5(COL2A1):c.2517+2T>C SNV
Germline		 Chr12:47980913 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544854 rs_2540124442

1 SubmittersRCV002824874
NM_001844.5(COL2A1):c.4081T>G (p.Tyr1361Asp) SNV
Germline		 Chr12:47974325 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533993 rs_2136506414

1 SubmittersRCV002824033
NM_001844.5(COL2A1):c.3347G>A (p.Gly1116Asp) SNV
Germline		 Chr12:47976900 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539098 rs_2540105931

1 SubmittersRCV002816696
NM_001844.5(COL2A1):c.76C>T (p.Gln26Ter) SNV
Germline		 Chr12:48004246 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384528173 rs_2540194058

1 SubmittersRCV002842009
NM_001844.5(COL2A1):c.225C>A (p.Cys75Ter) SNV
Germline		 Chr12:47999986 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384526088 rs_2540187525

1 SubmittersRCV002825503
NM_001844.5(COL2A1):c.3111+2T>A SNV
Germline		 Chr12:47978008 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540606 rs_1938818395

1 SubmittersRCV002866207
NM_001844.5(COL2A1):c.2599G>A (p.Gly867Ser) SNV
Germline		 Chr12:47980580 Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384544385 rs_2540122196

2 SubmittersRCV002852746RCV005869921
NM_001844.5(COL2A1):c.1034G>T (p.Gly345Val) SNV
Germline		 Chr12:47989795 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555476 rs_1939617011

1 SubmittersRCV002872229
NM_001844.5(COL2A1):c.310-1G>A SNV
Germline		 Chr12:47998202 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525448 rs_2540182834

1 SubmittersRCV002853185
NM_001844.5(COL2A1):c.2625+1G>A SNV
Germline		 Chr12:47980553 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544337 rs_2540121990

1 SubmittersRCV002853253
NM_001844.5(COL2A1):c.3112-2A>G SNV
Germline		 Chr12:47977655 Pathogenic/Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384540603 rs_2540108803

2 SubmittersRCV002866646RCV006705739
NM_001844.5(COL2A1):c.2785A>T (p.Lys929Ter) SNV
Germline		 Chr12:47978707 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384542360 rs_2540113603

1 SubmittersRCV002852294
NM_001844.5(COL2A1):c.1438G>T (p.Gly480Ter) SNV
Germline		 Chr12:47986425 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384552873 rs_2136571464

1 SubmittersRCV002858153
NM_001844.5(COL2A1):c.924+2T>G SNV
Germline		 Chr12:47993807 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA236490662 rs_1000466404

1 SubmittersRCV002858166
NM_001844.5(COL2A1):c.1250G>A (p.Gly417Glu) SNV
Germline		 Chr12:47987285 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554184 rs_2136577094

1 SubmittersRCV002889365
NM_001844.5(COL2A1):c.2863G>T (p.Glu955Ter) SNV
Germline		 Chr12:47978629 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384541920 rs_1373299848

1 SubmittersRCV002893942
NM_001844.5(COL2A1):c.1941+1G>T SNV
Germline		 Chr12:47984086 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384548720 rs_1555166808

1 SubmittersRCV002876857
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter) SNV
Germline		 Chr12:47995757 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA384523793 rs_2540174635

2 SubmittersRCV002862651RCV003151422
NM_001844.5(COL2A1):c.1870G>C (p.Gly624Arg) SNV
Germline		 Chr12:47984563 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384549364 rs_2540143179

1 SubmittersRCV002852947
NM_001844.5(COL2A1):c.2895+1G>A SNV
Germline		 Chr12:47978596 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384541710 rs_2540113039

1 SubmittersRCV002880358
NM_001844.5(COL2A1):c.2726G>A (p.Gly909Asp) SNV
Germline		 Chr12:47979518 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384543801 rs_2136532206

1 SubmittersRCV002871434
NM_001844.5(COL2A1):c.313C>T (p.Gln105Ter) SNV
Germline		 Chr12:47998198 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525428 rs_2540182818

1 SubmittersRCV002863500
NM_001844.5(COL2A1):c.1231G>T (p.Gly411Ter) SNV
Germline		 Chr12:47987304 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554254 rs_2136577175

1 SubmittersRCV002867448
NM_001844.5(COL2A1):c.2575G>A (p.Asp859Asn) SNV
Germline		 Chr12:47980604 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535051 rs_749527439

2 SubmittersRCV002903026RCV005321260
NM_001844.5(COL2A1):c.1582-2A>T SNV
Germline		 Chr12:47985828 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384551882 rs_1246123283

1 SubmittersRCV002890963
NM_001844.5(COL2A1):c.2668C>T (p.Gln890Ter) SNV
Germline		 Chr12:47980020 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544193 rs_2540119682

1 SubmittersRCV002872610
NM_001844.5(COL2A1):c.430-2A>T SNV
Germline		 Chr12:47997709 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384524923 rs_2540180667

1 SubmittersRCV002877453
NM_001844.5(COL2A1):c.4240C>T (p.Gln1414Ter) SNV
Germline		 Chr12:47974166 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384533555 rs_2540094630

1 SubmittersRCV002877522
NM_001844.5(COL2A1):c.86-1G>C SNV
Germline		 Chr12:48000126 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384526898 rs_2540187950

1 SubmittersRCV002894373
NM_001844.5(COL2A1):c.2267G>T (p.Gly756Val) SNV
Germline		 Chr12:47982536 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545997 rs_2540134070

1 SubmittersRCV002889927
NM_001844.5(COL2A1):c.1735-2A>C SNV
Germline		 Chr12:47985095 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384550838 rs_2540144871

1 SubmittersRCV002882049
NM_001844.5(COL2A1):c.3131G>C (p.Gly1044Ala) SNV
Germline		 Chr12:47977634 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540557 rs_1229928635

1 SubmittersRCV002931922
NM_001844.5(COL2A1):c.646G>T (p.Gly216Cys) SNV
Germline		 Chr12:47995883 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523854 rs_2540175271

1 SubmittersRCV002948635
NM_001844.5(COL2A1):c.2833G>C (p.Gly945Arg) SNV
Germline		 Chr12:47978659 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384542095 rs_886039542

1 SubmittersRCV003009755
NM_001844.5(COL2A1):c.2453G>T (p.Arg818Leu) SNV
Germline		 Chr12:47981353 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA6535096 rs_376834551

4 SubmittersRCV002993577RCV004978431RCV005869969
NM_001844.5(COL2A1):c.664G>C (p.Gly222Arg) SNV
Germline		 Chr12:47995754 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523779 rs_2540174605

1 SubmittersRCV003013330
NM_001844.5(COL2A1):c.3435+5G>C SNV
Germline		 Chr12:47976807 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2580085743 rs_2540105517

1 SubmittersRCV002996584
NM_001844.5(COL2A1):c.4074+2T>G SNV
Germline		 Chr12:47974673 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384535248 rs_2540096951

2 SubmittersRCV003008241
NM_001844.5(COL2A1):c.1763G>A (p.Gly588Glu) SNV
Germline		 Chr12:47985065 Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384550716 rs_2540144774

2 SubmittersRCV003018548RCV006705749
NM_001844.5(COL2A1):c.997G>C (p.Gly333Arg) SNV
Germline		 Chr12:47992904 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555642 rs_2540165606

1 SubmittersRCV003012149
NM_001844.5(COL2A1):c.1394G>T (p.Gly465Val) SNV
Germline		 Chr12:47986860 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553277 rs_2540150856

1 SubmittersRCV003022145
NM_001844.5(COL2A1):c.86-1G>A SNV
Germline		 Chr12:48000126 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384526896 rs_2540187950

1 SubmittersRCV003017611
NM_001844.5(COL2A1):c.102T>A (p.Cys34Ter) SNV
Germline		 Chr12:48000109 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384526775 rs_2136637552

1 SubmittersRCV003046197
NM_001844.5(COL2A1):c.970-2A>G SNV
Germline		 Chr12:47992933 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555727 rs_2540165725

1 SubmittersRCV003029646
NM_001844.5(COL2A1):c.2545G>T (p.Gly849Cys) SNV
Germline		 Chr12:47980634 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544502 rs_1302361762

1 SubmittersRCV003041744
NM_001844.5(COL2A1):c.3194G>A (p.Gly1065Glu) SNV
Germline		 Chr12:47977399 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540416 rs_2540107941

1 SubmittersRCV003042625
NM_001844.5(COL2A1):c.3961G>T (p.Glu1321Ter) SNV
Germline		 Chr12:47974788 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384535870 rs_748248022

1 SubmittersRCV003059231
NM_001844.5(COL2A1):c.863G>A (p.Gly288Asp) SNV
Germline		 Chr12:47994001 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522289 rs_2540169048

1 SubmittersRCV003049398
NM_001844.5(COL2A1):c.3137C>T (p.Pro1046Leu) SNV
Germline		 Chr12:47977628 Conflicting classifications of pathogenicity Condition: not provided
Achondrogenesis type II
Spondyloperipheral dysplasia		 Criteria Provided
Conflicting Classifications
 CA384540548 rs_763772608

3 SubmittersRCV003049106RCV005869983RCV005869982
NM_001844.5(COL2A1):c.2491G>T (p.Gly831Ter) SNV
Germline		 Chr12:47980941 Pathogenic Condition: not provided
Type 2 collagenopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384544965 rs_1064796660

2 SubmittersRCV003054316RCV003985110
NM_001844.5(COL2A1):c.1024-1G>A SNV
Germline		 Chr12:47989806 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555503 rs_2540159072

1 SubmittersRCV003047161
NM_001844.5(COL2A1):c.701G>A (p.Gly234Asp) SNV
Germline		 Chr12:47995717 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523628 rs_2540174470

1 SubmittersRCV003046639
NM_001844.5(COL2A1):c.881G>T (p.Gly294Val) SNV
Germline		 Chr12:47993852 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384521940 rs_2540168566

1 SubmittersRCV003039276
NM_001844.5(COL2A1):c.1A>T (p.Met1Leu) SNV
Germline		 Chr12:48004321 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384528520 rs_2136652928

1 SubmittersRCV003049846
NM_001844.5(COL2A1):c.964C>T (p.Pro322Ser) SNV
Germline		 Chr12:47993463 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535693 rs_200696675

2 SubmittersRCV003055653
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser) SNV
Germline		 Chr12:47982883 Conflicting classifications of pathogenicity Condition: not provided
Stickler syndrome type 1
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Conflicting Classifications
 CA384546974 rs_1489630072

3 SubmittersRCV003050291RCV003989800RCV006697012
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser) SNV
Germline		 Chr12:47982910 Conflicting classifications of pathogenicity Condition: not provided
15 conditions
Spondyloperipheral dysplasia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384547076 rs_1362360030

4 SubmittersRCV003052477RCV004796755RCV005254683RCV005542904
NM_001844.5(COL2A1):c.3373G>A (p.Gly1125Ser) SNV
Germline		 Chr12:47976874 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384538971 rs_2540105806

1 SubmittersRCV003045065
NM_001844.5(COL2A1):c.1790G>A (p.Gly597Glu) SNV
Germline		 Chr12:47985038 Likely pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA384550618 rs_2540144667

1 SubmittersRCV002702595
NM_001844.5(COL2A1):c.2852G>A (p.Gly951Glu) SNV
Germline		 Chr12:47978640 Likely pathogenic Inborn genetic diseases Criteria Provided
Single Submitter
 CA384541985 rs_2540113244

1 SubmittersRCV002794492
NM_001844.5(COL2A1):c.2559G>T (p.Glu853Asp) SNV
Germline		 Chr12:47980620 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384544471 rs_770939212

2 SubmittersRCV002879645RCV003777889
NM_001844.5(COL2A1):c.2962C>T (p.Gln988Ter) SNV
Germline		 Chr12:47978332 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384541260 rs_2540111777

1 SubmittersRCV003108258
NM_001844.5(COL2A1):c.1221+3A>C SNV
Germline		 Chr12:47987608 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2580085533 rs_2540153237

1 SubmittersRCV003110078
NM_001844.5(COL2A1):c.1025G>T (p.Gly342Val) SNV
Germline		 Chr12:47989804 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555495 rs_2540159066

1 SubmittersRCV003120340
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg) SNV
Germline		 Chr12:48000111 Pathogenic/Likely pathogenic Condition: not provided
Stickler syndrome, type I, nonsyndromic ocular		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384526788 rs_2540187904

3 SubmittersRCV003120486RCV006695735
NM_001844.5(COL2A1):c.610-2A>G SNV
Germline		 Chr12:47995921 Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia congenita
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384524001 rs_2540175543

2 SubmittersRCV003123311RCV005099260
NM_001844.5(COL2A1):c.353C>T (p.Pro118Leu) SNV
Germline		 Chr12:47998054 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6535979 rs_777669076

2 SubmittersRCV003141684
NM_001844.5(COL2A1):c.3238G>C (p.Gly1080Arg) SNV
Germline		 Chr12:47977355 Likely pathogenic Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384540190 rs_2540107776

3 SubmittersRCV003143619RCV006697013
NM_001844.5(COL2A1):c.531+1G>A SNV
Germline		 Chr12:47997605 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384524628 rs_2540179907

2 SubmittersRCV003149219
NM_001844.5(COL2A1):c.638G>A (p.Gly213Asp) SNV
Unknown		 Chr12:47995891 Likely pathogenic Platyspondylic dysplasia, Torrance type Criteria Provided
Single Submitter
 CA384523881 rs_2540175331

1 SubmittersRCV003153183
NM_001844.5(COL2A1):c.2951G>A (p.Gly984Asp) SNV
Germline		 Chr12:47978343 Likely pathogenic See cases No Assertion Criteria Provided
 CA384541309 rs_2540111800

1 SubmittersRCV003155543
NM_001844.5(COL2A1):c.2302-1G>T SNV
Germline		 Chr12:47982161 Pathogenic Achondrogenesis type II Criteria Provided
Single Submitter
 CA384545811 rs_2540132223

1 SubmittersRCV003157996
NM_001844.5(COL2A1):c.1429G>C (p.Gly477Arg) SNV
Germline		 Chr12:47986434 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384552933 rs_2540149322

1 SubmittersRCV003222764
NM_001844.5(COL2A1):c.2545G>A (p.Gly849Ser) SNV
Germline		 Chr12:47980634 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544503 rs_1302361762

1 SubmittersRCV003223965
NM_001844.5(COL2A1):c.1744G>A (p.Gly582Ser) SNV
Germline		 Chr12:47985084 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384550791 rs_2540144824

1 SubmittersRCV003236121
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser) SNV
Germline		 Chr12:47987176 Pathogenic/Likely pathogenic Achondrogenesis type II
Condition: not provided
Autosomal dominant COL2A1-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384554079 rs_2540151788

4 SubmittersRCV003236501RCV003669369RCV006695738
NM_001844.5(COL2A1):c.3806T>C (p.Ile1269Thr) SNV
Germline		 Chr12:47975397 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA384536617 rs_1197381768

2 SubmittersRCV003274704RCV003779912
NM_001844.5(COL2A1):c.4011G>A (p.Trp1337Ter) SNV
Germline		 Chr12:47974738 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384535646 rs_2540097262

1 SubmittersRCV003318068
NM_001844.5(COL2A1):c.2131G>C (p.Gly711Arg) SNV
Germline		 Chr12:47982910 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547073 rs_1362360030

1 SubmittersRCV003318208
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu) SNV
Germline		 Chr12:48000065 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA6536086 rs_774081386

2 SubmittersRCV003323196
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser) SNV
Germline		 Chr12:47981784 Pathogenic/Likely pathogenic Achondrogenesis type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384545420 rs_2540129721

2 SubmittersRCV003328140RCV005251355
NM_001844.5(COL2A1):c.3256G>A (p.Gly1086Arg) SNV
Germline		 Chr12:47977337 Likely pathogenic Spondyloepiphyseal dysplasia, Stanescu type
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384540083 rs_2540107727

2 SubmittersRCV003337795RCV006472415
NM_001844.5(COL2A1):c.655-2A>G SNV
Germline		 Chr12:47995765 Pathogenic Stickler syndrome type 1 No Assertion Criteria Provided
 CA384523810 rs_2136618395

1 SubmittersRCV003388641
NM_001844.5(COL2A1):c.2409+1G>A SNV
Germline		 Chr12:47981775 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter
 CA6535114 rs_747935160

1 SubmittersRCV004531594
NM_001844.5(COL2A1):c.1987G>A (p.Gly663Arg) SNV
Germline		 Chr12:47983691 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter
 CA384548348 rs_2540139870

1 SubmittersRCV004528656
NM_001844.5(COL2A1):c.1834-1G>A SNV
Germline		 Chr12:47984600 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter
 CA384549607 rs_2540143322

1 SubmittersRCV004534389
NM_001844.5(COL2A1):c.1358G>T (p.Gly453Val) SNV
Germline		 Chr12:47987085 Pathogenic COL2A1-related disorder Criteria Provided
Single Submitter
 CA384553697 rs_794727339

1 SubmittersRCV004527895
NM_001844.5(COL2A1):c.3536G>A (p.Gly1179Glu) SNV
Germline		 Chr12:47976024 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter
 CA384537367 rs_2540102569

1 SubmittersRCV004529313
NM_001844.5(COL2A1):c.3925G>A (p.Asp1309Asn) SNV
Germline		 Chr12:47974824 Conflicting classifications of pathogenicity Condition: not provided
COL2A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA384536056 rs_2540097718

2 SubmittersRCV003699084RCV004529841
NM_001844.5(COL2A1):c.2679+1G>T SNV
Germline		 Chr12:47980008 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter
 CA384544145 rs_1592205758

1 SubmittersRCV004528034
NM_001844.5(COL2A1):c.309+1G>A SNV
Germline		 Chr12:47998414 Pathogenic/Likely pathogenic COL2A1-related disorder
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384525522 rs_2540183519

2 SubmittersRCV004528020RCV005254781
NM_001844.5(COL2A1):c.1286G>A (p.Gly429Asp) SNV
Germline		 Chr12:47987157 Pathogenic/Likely pathogenic COL2A1-related disorder
Condition: not provided
Spondyloperipheral dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384554006 rs_2540151727

4 SubmittersRCV004531617RCV005639510RCV006703395
NM_001844.5(COL2A1):c.3437G>C (p.Gly1146Ala) SNV
Germline		 Chr12:47976566 Likely pathogenic Type 2 collagenopathy Criteria Provided
Single Submitter
 CA384537575 rs_1938719104

1 SubmittersRCV006455645
NM_001844.5(COL2A1):c.3401G>A (p.Gly1134Asp) SNV
Germline		 Chr12:47976846 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384538786 rs_2540105677

1 SubmittersRCV003441486
NM_001844.5(COL2A1):c.1581+1G>A SNV
Germline		 Chr12:47985911 Likely pathogenic Spondyloepiphyseal dysplasia congenita
Type 2 collagenopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384551930 rs_2540147368

2 SubmittersRCV003444051RCV006257377
NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg) SNV
Unknown		 Chr12:47987295 Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type Criteria Provided
Single Submitter
 CA384554222 rs_2540152190

1 SubmittersRCV003444052
NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg) SNV
Unknown		 Chr12:47989778 Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type Criteria Provided
Single Submitter
 CA384555441 rs_1438029595

1 SubmittersRCV003444053
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser) SNV
Germline		 Chr12:47979519 Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type Criteria Provided
Single Submitter
 CA384543805 rs_121912875

1 SubmittersRCV003444081
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser) SNV
Germline		 Chr12:47982510 Likely pathogenic Achondrogenesis type II Criteria Provided
Single Submitter
 CA384545905 rs_2540133960

1 SubmittersRCV003447778
NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp) SNV
Unknown		 Chr12:47985074 Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type Criteria Provided
Single Submitter
 CA384550745 rs_1939319350

1 SubmittersRCV003459034
NM_001844.5(COL2A1):c.1266+1G>T SNV
Germline		 Chr12:47987268 Pathogenic Kniest dysplasia Criteria Provided
Single Submitter
 CA384554122 rs_2540152086

1 SubmittersRCV003485994
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp) SNV
Germline		 Chr12:47978044 Pathogenic Achondrogenesis type II Criteria Provided
Single Submitter
 CA384540693 rs_1555165336

1 SubmittersRCV003485995
NM_001844.5(COL2A1):c.3454G>A (p.Gly1152Ser) SNV
Germline		 Chr12:47976549 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537544 rs_1592198747

1 SubmittersRCV003489341
NM_001844.5(COL2A1):c.343-1G>A SNV
Germline		 Chr12:47998065 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525234 rs_2540182212

1 SubmittersRCV003541866
NM_001844.5(COL2A1):c.1520G>C (p.Gly507Ala) SNV
Germline		 Chr12:47986343 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384552401 rs_868417981

1 SubmittersRCV003549266
NM_001844.5(COL2A1):c.2428G>A (p.Gly810Ser) SNV
Germline		 Chr12:47981378 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545258 rs_794727596

1 SubmittersRCV003577677
NM_001844.5(COL2A1):c.1348G>T (p.Gly450Cys) SNV
Germline		 Chr12:47987095 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553743 rs_2136575653

1 SubmittersRCV003557197
NM_001844.5(COL2A1):c.2872G>T (p.Glu958Ter) SNV
Germline		 Chr12:47978620 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384541865 rs_2540113158

1 SubmittersRCV003559624
NM_001844.5(COL2A1):c.970-1G>A SNV
Germline		 Chr12:47992932 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384555724 rs_2540165717

1 SubmittersRCV003561806
NM_001844.5(COL2A1):c.1879G>A (p.Gly627Ser) SNV
Germline		 Chr12:47984554 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384549313 rs_2540143151

1 SubmittersRCV003561582
NM_001844.5(COL2A1):c.3464G>T (p.Gly1155Val) SNV
Germline		 Chr12:47976539 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537521 rs_1938716355

1 SubmittersRCV003557714
NM_001844.5(COL2A1):c.2707G>A (p.Gly903Ser) SNV
Germline		 Chr12:47979537 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384543889 rs_2540116801

1 SubmittersRCV003557717
NM_001844.5(COL2A1):c.1888-2A>G SNV
Germline		 Chr12:47984142 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384549157 rs_2540141840

2 SubmittersRCV003557718
NM_001844.5(COL2A1):c.762+5G>A SNV
Germline		 Chr12:47995250 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA2695216319 rs_2540172615

2 SubmittersRCV003557720
NM_001844.5(COL2A1):c.997G>A (p.Gly333Arg) SNV
Germline		 Chr12:47992904 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384555643 rs_2540165606

2 SubmittersRCV003555415
NM_001844.5(COL2A1):c.872G>T (p.Gly291Val) SNV
Germline		 Chr12:47993861 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384522246 rs_2540168609

2 SubmittersRCV003557943
NM_001844.5(COL2A1):c.890G>A (p.Gly297Asp) SNV
Germline		 Chr12:47993843 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384521924 rs_2540168526

1 SubmittersRCV003570613
NM_001844.5(COL2A1):c.3913G>A (p.Gly1305Ser) SNV
Germline		 Chr12:47974836 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384536108 rs_2540097776

1 SubmittersRCV003566810
NM_001844.5(COL2A1):c.611G>A (p.Gly204Asp) SNV
Germline		 Chr12:47995918 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523984 rs_2540175512

1 SubmittersRCV003572016
NM_001844.5(COL2A1):c.2464-1G>T SNV
Germline		 Chr12:47980969 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545073 rs_1939038006

1 SubmittersRCV003568857
NM_001844.5(COL2A1):c.908G>T (p.Gly303Val) SNV
Germline		 Chr12:47993825 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384521884 rs_121912877

1 SubmittersRCV003568937
NM_001844.5(COL2A1):c.2301+1G>T SNV
Germline		 Chr12:47982501 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545864 rs_2540133883

1 SubmittersRCV003576534
NM_001844.5(COL2A1):c.2049+1G>T SNV
Germline		 Chr12:47983384 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547776 rs_1555166658

1 SubmittersRCV003572633
NM_001844.5(COL2A1):c.1376G>C (p.Gly459Ala) SNV
Germline		 Chr12:47986878 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553388 rs_2540150901

1 SubmittersRCV003578125
NM_001844.5(COL2A1):c.899G>A (p.Gly300Glu) SNV
Germline		 Chr12:47993834 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384521904 rs_2540168498

1 SubmittersRCV003580137
NM_001844.5(COL2A1):c.375+2T>A SNV
Germline		 Chr12:47998030 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525095 rs_2540182079

1 SubmittersRCV003661526
NM_001844.5(COL2A1):c.1826G>C (p.Gly609Ala) SNV
Germline		 Chr12:47985002 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA6535373 rs_140580674

1 SubmittersRCV003667510
NM_001844.5(COL2A1):c.1337C>T (p.Thr446Ile) SNV
Germline		 Chr12:47987106 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6535517 rs_532077176

2 SubmittersRCV003674899RCV005545056
NM_001844.5(COL2A1):c.2146C>T (p.Gln716Ter) SNV
Germline		 Chr12:47982895 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547016 rs_2540135979

1 SubmittersRCV003682504
NM_001844.5(COL2A1):c.310-2A>G SNV
Germline		 Chr12:47998203 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525455 rs_2540182840

1 SubmittersRCV003685373
NM_001844.5(COL2A1):c.2185G>A (p.Gly729Ser) SNV
Germline		 Chr12:47982856 Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384546859 rs_2540135652

2 SubmittersRCV003684155RCV005250320
NM_001844.5(COL2A1):c.3509G>C (p.Gly1170Ala) SNV
Germline		 Chr12:47976051 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384537423 rs_2540102657

1 SubmittersRCV003680132
NM_001844.5(COL2A1):c.835G>A (p.Gly279Arg) SNV
Germline		 Chr12:47994029 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522345 rs_2136610618

1 SubmittersRCV003681152
NM_001844.5(COL2A1):c.2329G>T (p.Gly777Ter) SNV
Germline		 Chr12:47982133 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545698 rs_2540131993

1 SubmittersRCV003686340
NM_001844.5(COL2A1):c.391C>T (p.Gln131Ter) SNV
Germline		 Chr12:47997909 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384525016 rs_2540181480

1 SubmittersRCV003720964
NM_001844.5(COL2A1):c.628G>A (p.Gly210Arg) SNV
Germline		 Chr12:47995901 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384523921 rs_2540175371

1 SubmittersRCV003706513
NM_001844.5(COL2A1):c.2194-2A>G SNV
Germline		 Chr12:47982611 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384546385 rs_2540134446

1 SubmittersRCV003683531
NM_001844.5(COL2A1):c.1321G>A (p.Gly441Ser) SNV
Germline		 Chr12:47987122 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553885 rs_2540151614

1 SubmittersRCV003693920
NM_001844.5(COL2A1):c.3238G>A (p.Gly1080Ser) SNV
Germline		 Chr12:47977355 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384540192 rs_2540107776

1 SubmittersRCV003723108
NM_001844.5(COL2A1):c.2644G>C (p.Gly882Arg) SNV
Germline		 Chr12:47980044 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544281 rs_2540119803

1 SubmittersRCV003714330
NM_001844.5(COL2A1):c.451A>T (p.Arg151Ter) SNV
Germline		 Chr12:47997686 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384524881 rs_752217760

1 SubmittersRCV003691568
NM_001844.5(COL2A1):c.2222G>A (p.Gly741Glu) SNV
Germline		 Chr12:47982581 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384546233 rs_2540134243

1 SubmittersRCV003686475
NM_001844.5(COL2A1):c.814C>T (p.Gln272Ter) SNV
Germline		 Chr12:47994426 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384522400 rs_2540170430

1 SubmittersRCV003691887
NM_001844.5(COL2A1):c.1327C>T (p.Gln443Ter) SNV
Germline		 Chr12:47987116 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553864 rs_2540151593

1 SubmittersRCV003691906
NM_001844.5(COL2A1):c.429+1G>C SNV
Germline		 Chr12:47997870 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384524930 rs_1409078868

1 SubmittersRCV003690131
NM_001844.5(COL2A1):c.3925G>C (p.Asp1309His) SNV
Germline		 Chr12:47974824 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384536054 rs_2540097718

1 SubmittersRCV003690198
NM_001844.5(COL2A1):c.3897G>C (p.Trp1299Cys) SNV
Germline		 Chr12:47974852 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384536179 rs_2136508895

1 SubmittersRCV003719204
NM_001844.5(COL2A1):c.3327+1G>A SNV
Germline		 Chr12:47977101 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384539361 rs_2540106845

1 SubmittersRCV003695800
NM_001844.5(COL2A1):c.1979G>T (p.Gly660Val) SNV
Germline		 Chr12:47983699 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384548388 rs_1555166729

1 SubmittersRCV003688689
NM_001844.5(COL2A1):c.2625+1G>C SNV
Germline		 Chr12:47980553 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544336 rs_2540121990

1 SubmittersRCV003716864
NM_001844.5(COL2A1):c.2429G>C (p.Gly810Ala) SNV
Germline		 Chr12:47981377 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384545253 rs_2540127265

1 SubmittersRCV003690966
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys) SNV
Germline		 Chr12:47978036 Pathogenic/Likely pathogenic Condition: not provided
15 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384540660 rs_2540110405

2 SubmittersRCV003701943RCV005013107
NM_001844.5(COL2A1):c.2672G>C (p.Gly891Ala) SNV
Germline		 Chr12:47980016 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384544178 rs_2540119648

1 SubmittersRCV003705083
NM_001844.5(COL2A1):c.2095-1G>A SNV
Germline		 Chr12:47982947 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
 CA384547297 rs_2540136240

3 SubmittersRCV003740521
NM_001844.5(COL2A1):c.2755C>T (p.Pro919Ser) SNV
Germline		 Chr12:47978737 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA384543383 rs_1178264170

2 SubmittersRCV003828339RCV005806852
NM_001844.5(COL2A1):c.4092C>T (p.Asp1364=) SNV
Germline		 Chr12:47974314 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA479450269 rs_766131966

2 SubmittersRCV003819720
NM_001844.5(COL2A1):c.1403G>A (p.Gly468Asp) SNV
Germline		 Chr12:47986851 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553215 rs_2540150838

1 SubmittersRCV003842954
NM_001844.5(COL2A1):c.1123-2A>G SNV
Germline		 Chr12:47987711 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384554674 rs_2540153512

1 SubmittersRCV003842955
NM_001844.5(COL2A1):c.2416G>T (p.Val806Phe) SNV
Germline		 Chr12:47981390 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA236523688 rs_548481093

3 SubmittersRCV003849204RCV005537717
NM_001844.5(COL2A1):c.889G>A (p.Gly297Ser) SNV
Germline		 Chr12:47993844 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384521927 rs_1939822204

1 SubmittersRCV003856990
NM_001844.5(COL2A1):c.2920C>T (p.Gln974Ter) SNV
Germline		 Chr12:47978374 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384541476 rs_2540111973

1 SubmittersRCV003855111
NM_001844.5(COL2A1):c.1095T>G (p.Pro365=) SNV
Germline		 Chr12:47989255 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA479476421 rs_2136587657

2 SubmittersRCV003853980
NM_001844.5(COL2A1):c.2140G>C (p.Gly714Arg) SNV
Germline		 Chr12:47982901 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384547040 rs_2540136030

1 SubmittersRCV003887451
NM_001844.5(COL2A1):c.1366-1G>A SNV
Germline		 Chr12:47986889 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA384553460 rs_2136574259

1 SubmittersRCV003887775
NM_001844.5(COL2A1):c.870+2T>C SNV
Germline		 Chr12:47993992 Likely pathogenic COL2A1-related disorder No Assertion Criteria Provided
 CA384522268 rs_2540169027

1 SubmittersRCV004534576
NM_001844.5(COL2A1):c.292+2T>A SNV
Germline		 Chr12:47999917 Likely pathogenic Achondrogenesis type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384525697 rs_2540187271

2 SubmittersRCV003988408RCV006483703
NM_001844.5(COL2A1):c.1527+1G>C SNV
Germline		 Chr12:47986335 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter
 CA384552348 rs_2540148810

1 SubmittersRCV003994720
NM_001844.5(COL2A1):c.3320G>A (p.Gly1107Glu) SNV
Germline		 Chr12:47977109 Likely pathogenic Achondrogenesis type II Criteria Provided
Single Submitter

1 SubmittersRCV004780731
NM_001844.5(COL2A1):c.3158G>C (p.Gly1053Ala) SNV
Germline		 Chr12:47977607 Likely pathogenic Achondrogenesis type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA384540507 rs_121912868

2 SubmittersRCV004555254RCV005100822
NM_001844.5(COL2A1):c.2266G>C (p.Gly756Arg) SNV
Germline		 Chr12:47982537 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_2540134084

1 SubmittersRCV004592385
NM_001844.5(COL2A1):c.692G>A (p.Gly231Asp) SNV
Germline		 Chr12:47995726 Likely pathogenic Type 2 collagenopathy Criteria Provided
Single Submitter
 rs_2540174508

1 SubmittersRCV004595386
NM_001844.5(COL2A1):c.2645G>T (p.Gly882Val) SNV
Germline		 Chr12:47980043 Likely pathogenic Spondyloepiphyseal dysplasia congenita Criteria Provided
Single Submitter

1 SubmittersRCV004596034
NM_001844.5(COL2A1):c.2463+1G>A SNV
Germline		 Chr12:47981342 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004696800
NM_001844.5(COL2A1):c.2564G>T (p.Gly855Val) SNV
Germline		 Chr12:47980615 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004702111
NM_001844.5(COL2A1):c.2014G>A (p.Gly672Ser) SNV
Germline		 Chr12:47983420 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004702112
NM_001844.5(COL2A1):c.971G>A (p.Gly324Asp) SNV
Germline		 Chr12:47992930 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004726056
NM_001844.5(COL2A1):c.2464G>T (p.Gly822Cys) SNV
Germline		 Chr12:47980968 Likely pathogenic COL2A1-related disorder
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Single Submitter

2 SubmittersRCV004729983RCV006694084
NM_001844.5(COL2A1):c.3176G>C (p.Gly1059Ala) SNV
Germline		 Chr12:47977417 Likely pathogenic COL2A1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004724717
NM_001844.5(COL2A1):c.3158G>T (p.Gly1053Val) SNV
Germline		 Chr12:47977607 Likely pathogenic COL2A1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004724482
NM_001844.5(COL2A1):c.1528-1G>A SNV
Germline		 Chr12:47985966 Likely pathogenic COL2A1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004724555
NM_001844.5(COL2A1):c.928G>T (p.Glu310Ter) SNV
Germline		 Chr12:47993499 Pathogenic COL2A1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004730273
NM_001844.5(COL2A1):c.3886+2T>G SNV
Germline		 Chr12:47975315 Pathogenic COL2A1-related disorder
Condition: not provided		 Criteria Provided
Single Submitter

2 SubmittersRCV004726348RCV005103648
NM_001844.5(COL2A1):c.376-2A>G SNV
Germline		 Chr12:47997926 Likely pathogenic COL2A1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004726439
NM_001844.5(COL2A1):c.1502G>T (p.Gly501Val) SNV
Germline		 Chr12:47986361 Likely pathogenic COL2A1-related disorder No Assertion Criteria Provided

1 SubmittersRCV004728358
NM_001844.5(COL2A1):c.2059G>C (p.Gly687Arg) SNV
Germline		 Chr12:47983128 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004760953
NM_001844.5(COL2A1):c.2050-1G>C SNV
Germline		 Chr12:47983138 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004760958
NM_001844.5(COL2A1):c.3581G>A (p.Gly1194Asp) SNV
Germline		 Chr12:47975979 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004764059
NM_001844.5(COL2A1):c.2895+1G>T SNV
Germline		 Chr12:47978596 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004776390
NM_001844.5(COL2A1):c.1529G>A (p.Gly510Asp) SNV
Germline		 Chr12:47985964 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004780869
NM_001844.5(COL2A1):c.1266+2T>A SNV
Germline		 Chr12:47987267 Pathogenic Kniest dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV004795362
NM_001844.5(COL2A1):c.2771G>A (p.Gly924Glu) SNV
Germline		 Chr12:47978721 Likely pathogenic 15 conditions Criteria Provided
Single Submitter

1 SubmittersRCV004797107
NM_001844.5(COL2A1):c.3293G>A (p.Gly1098Glu) SNV
Germline		 Chr12:47977136 Likely pathogenic 15 conditions Criteria Provided
Single Submitter

1 SubmittersRCV004797345
NM_001844.5(COL2A1):c.1527+2T>A SNV
Germline		 Chr12:47986334 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004795509
NM_001844.5(COL2A1):c.970-2A>T SNV
Germline		 Chr12:47992933 Pathogenic Kniest dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV004795592
NM_001844.5(COL2A1):c.3040G>A (p.Gly1014Arg) SNV
Germline		 Chr12:47978081 Pathogenic 15 conditions Criteria Provided
Single Submitter

1 SubmittersRCV004795686
NM_001844.5(COL2A1):c.1519G>A (p.Gly507Arg) SNV
Germline		 Chr12:47986344 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004801615
NM_001844.5(COL2A1):c.2056C>A (p.Pro686Thr) SNV
Germline		 Chr12:47983131 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004974267RCV006631237
NM_001844.5(COL2A1):c.1529G>T (p.Gly510Val) SNV
Germline		 Chr12:47985964 Likely pathogenic 15 conditions Criteria Provided
Single Submitter

1 SubmittersRCV005009092
NM_001844.5(COL2A1):c.1365+3A>C SNV
Germline		 Chr12:47987075 Likely pathogenic 15 conditions Criteria Provided
Single Submitter

1 SubmittersRCV005009093
NM_001844.5(COL2A1):c.3878G>A (p.Trp1293Ter) SNV
Germline		 Chr12:47975325 Pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005001540
NM_001844.5(COL2A1):c.2582G>T (p.Gly861Val) SNV
Germline		 Chr12:47980597 Pathogenic Spondylometaphyseal dysplasia, Schmidt type No Assertion Criteria Provided

1 SubmittersRCV005052125
NM_001844.5(COL2A1):c.1681-1G>C SNV
Germline		 Chr12:47985588 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005054565
NM_001844.5(COL2A1):c.1993C>T (p.Gln665Ter) SNV
Germline		 Chr12:47983685 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005063510
NM_001844.5(COL2A1):c.140G>A (p.Trp47Ter) SNV
Germline		 Chr12:48000071 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005072853
NM_001844.5(COL2A1):c.1903G>C (p.Asp635His) SNV
Germline		 Chr12:47984125 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications

2 SubmittersRCV005084211
NM_001844.5(COL2A1):c.1943G>T (p.Gly648Val) SNV
Germline		 Chr12:47983735 Pathogenic Achondrogenesis type II Criteria Provided
Single Submitter

1 SubmittersRCV005087563
NM_001844.5(COL2A1):c.4317+1G>C SNV
Germline		 Chr12:47974088 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005114899
NM_001844.5(COL2A1):c.1988G>C (p.Gly663Ala) SNV
Germline		 Chr12:47983690 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005115093
NM_001844.5(COL2A1):c.101G>A (p.Cys34Tyr) SNV
Germline		 Chr12:48000110 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005111686
NM_001844.5(COL2A1):c.1636G>T (p.Gly546Cys) SNV
Germline		 Chr12:47985772 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005118044
NM_001844.5(COL2A1):c.826G>T (p.Gly276Cys) SNV
Germline		 Chr12:47994038 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005119648
NM_001844.5(COL2A1):c.3415C>T (p.Gln1139Ter) SNV
Germline		 Chr12:47976832 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005130696
NM_001844.5(COL2A1):c.1762G>A (p.Gly588Arg) SNV
Germline		 Chr12:47985066 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005131045
NM_001844.5(COL2A1):c.1060G>C (p.Gly354Arg) SNV
Germline		 Chr12:47989769 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005124232
NM_001844.5(COL2A1):c.2239G>A (p.Gly747Ser) SNV
Germline		 Chr12:47982564 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005124244
NM_001844.5(COL2A1):c.4120C>T (p.Gln1374Ter) SNV
Germline		 Chr12:47974286 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005127737
NM_001844.5(COL2A1):c.1834-2A>G SNV
Germline		 Chr12:47984601 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005121828
NM_001844.5(COL2A1):c.827G>T (p.Gly276Val) SNV
Germline		 Chr12:47994037 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005123923
NM_001844.5(COL2A1):c.2069G>A (p.Gly690Glu) SNV
Germline		 Chr12:47983118 Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005125224RCV006706483
NM_001844.5(COL2A1):c.1079G>C (p.Gly360Ala) SNV
Germline		 Chr12:47989271 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005131276
NM_001844.5(COL2A1):c.1195G>C (p.Gly399Arg) SNV
Germline		 Chr12:47987637 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005141039
NM_001844.5(COL2A1):c.1204G>A (p.Gly402Arg) SNV
Germline		 Chr12:47987628 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005141199
NM_001844.5(COL2A1):c.3490-1G>C SNV
Germline		 Chr12:47976071 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005140297
NM_001844.5(COL2A1):c.1365+2T>C SNV
Germline		 Chr12:47987076 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005140085
NM_001844.5(COL2A1):c.1762G>C (p.Gly588Arg) SNV
Germline		 Chr12:47985066 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005135663
NM_001844.5(COL2A1):c.355A>T (p.Lys119Ter) SNV
Germline		 Chr12:47998052 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005147612
NM_001844.5(COL2A1):c.3934A>T (p.Lys1312Ter) SNV
Germline		 Chr12:47974815 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005203387
NM_001844.5(COL2A1):c.4074+1G>T SNV
Germline		 Chr12:47974674 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005202971
NM_001844.5(COL2A1):c.3328G>A (p.Gly1110Ser) SNV
Germline		 Chr12:47976919 Pathogenic/Likely pathogenic Condition: not provided
Spondyloepiphyseal dysplasia congenita		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005202972RCV006646218
NM_001844.5(COL2A1):c.1312G>A (p.Gly438Ser) SNV
Germline		 Chr12:47987131 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005202977
NM_001844.5(COL2A1):c.1223G>A (p.Gly408Asp) SNV
Germline		 Chr12:47987312 Pathogenic/Likely pathogenic Condition: not provided
Kniest dysplasia		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005202978RCV006646219
NM_001844.5(COL2A1):c.763-2A>G SNV
Germline		 Chr12:47994479 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005202981
NM_001844.5(COL2A1):c.709G>C (p.Gly237Arg) SNV
Germline		 Chr12:47995308 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005203192
NM_001844.5(COL2A1):c.1069-2A>T SNV
Germline		 Chr12:47989283 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005201095
NM_001844.5(COL2A1):c.2517+1G>A SNV
Germline		 Chr12:47980914 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005207188
NM_001844.5(COL2A1):c.2501G>A (p.Gly834Glu) SNV
Germline		 Chr12:47980931 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005194443
NM_001844.5(COL2A1):c.3809G>A (p.Arg1270His) SNV
Germline		 Chr12:47975394 Conflicting classifications of pathogenicity Condition: not provided
Spondylometaphyseal dysplasia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005199942RCV005365502
NM_001844.5(COL2A1):c.3455G>T (p.Gly1152Val) SNV
Germline		 Chr12:47976548 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005198177
NM_001844.5(COL2A1):c.2717G>C (p.Gly906Ala) SNV
Germline		 Chr12:47979527 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005198178
NM_001844.5(COL2A1):c.2509G>A (p.Gly837Arg) SNV
Germline		 Chr12:47980923 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005198182
NM_001844.5(COL2A1):c.1205G>T (p.Gly402Val) SNV
Germline		 Chr12:47987627 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005198190
NM_001844.5(COL2A1):c.701G>T (p.Gly234Val) SNV
Germline		 Chr12:47995717 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005198191
NM_001844.5(COL2A1):c.728G>A (p.Gly243Asp) SNV
Germline		 Chr12:47995289 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV005233518
NM_001844.5(COL2A1):c.2087G>A (p.Gly696Asp) SNV
Germline		 Chr12:47983100 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005234242
NM_001844.5(COL2A1):c.3014G>A (p.Gly1005Asp) SNV
Germline		 Chr12:47978107 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005234628
NM_001844.5(COL2A1):c.2546G>A (p.Gly849Asp) SNV
Germline		 Chr12:47980633 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005241777
NM_001844.5(COL2A1):c.3590G>A (p.Gly1197Asp) SNV
Germline		 Chr12:47975970 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005254333
NM_001844.5(COL2A1):c.2744G>A (p.Gly915Glu) SNV
Germline		 Chr12:47978748 Likely pathogenic Achondrogenesis type II Criteria Provided
Single Submitter

1 SubmittersRCV005647417
NM_001844.5(COL2A1):c.2186G>A (p.Gly729Asp) SNV
Germline		 Chr12:47982855 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005367987
NM_001844.5(COL2A1):c.4075-2A>C SNV
Germline		 Chr12:47974333 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005400681
NM_001844.5(COL2A1):c.2824G>C (p.Gly942Arg) SNV
Germline		 Chr12:47978668 Likely pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005410870
NM_001844.5(COL2A1):c.619G>T (p.Gly207Ter) SNV
Germline		 Chr12:47995910 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005412804
NM_001844.5(COL2A1):c.1457G>T (p.Gly486Val) SNV
Unknown		 Chr12:47986406 Likely pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV005416167
NM_001844.5(COL2A1):c.4144T>C (p.Ser1382Pro) SNV
Germline		 Chr12:47974262 Likely pathogenic Achondrogenesis type II Criteria Provided
Single Submitter

1 SubmittersRCV006444379
NM_001844.5(COL2A1):c.1169G>A (p.Gly390Asp) SNV
Germline		 Chr12:47987663 Likely pathogenic Platyspondylic dysplasia, Torrance type
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005604382RCV006706542
NM_001844.5(COL2A1):c.1024-2A>C SNV
Germline		 Chr12:47989807 Pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005623666RCV005867403
NM_001844.5(COL2A1):c.1718G>A (p.Gly573Asp) SNV
Germline		 Chr12:47985550 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005623696
NM_001844.5(COL2A1):c.1628G>A (p.Gly543Glu) SNV
Germline		 Chr12:47985780 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005627055
NM_001844.5(COL2A1):c.2140G>A (p.Gly714Ser) SNV
Germline		 Chr12:47982901 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005636281
NM_001844.5(COL2A1):c.1943G>C (p.Gly648Ala) SNV
Germline		 Chr12:47983735 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005636282
NM_001844.5(COL2A1):c.2483G>A (p.Gly828Glu) SNV
Germline		 Chr12:47980949 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005640165
NM_001844.5(COL2A1):c.2528G>A (p.Gly843Asp) SNV
Germline		 Chr12:47980651 Likely pathogenic Condition: not provided
Autosomal dominant COL2A1-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005644040RCV006695786
NM_001844.5(COL2A1):c.1466G>A (p.Gly489Asp) SNV
Germline		 Chr12:47986397 Likely pathogenic Stickler syndrome, type I, nonsyndromic ocular Criteria Provided
Single Submitter

1 SubmittersRCV005646028
NM_001844.5(COL2A1):c.2518-1G>A SNV
Germline		 Chr12:47980662 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005860586
NM_001844.5(COL2A1):c.1165C>T (p.Gln389Ter) SNV
Germline		 Chr12:47987667 Pathogenic Stickler syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005860995RCV006489996
NM_001844.5(COL2A1):c.3041G>A (p.Gly1014Glu) SNV
Germline		 Chr12:47978080 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005859553
NM_001844.5(COL2A1):c.1438G>C (p.Gly480Arg) SNV
Germline		 Chr12:47986425 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005859823
NM_001844.5(COL2A1):c.2923G>A (p.Gly975Ser) SNV
Germline		 Chr12:47978371 Likely pathogenic Multiple epiphyseal dysplasia, Beighton type Criteria Provided
Single Submitter

1 SubmittersRCV005861936
NM_001844.5(COL2A1):c.2032G>A (p.Gly678Arg) SNV
Germline		 Chr12:47983402 Pathogenic Type 2 collagenopathy Criteria Provided
Single Submitter

1 SubmittersRCV006457514
NM_001844.5(COL2A1):c.2383G>A (p.Gly795Ser) SNV
Germline		 Chr12:47981802 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV005882390
NM_001844.5(COL2A1):c.1195G>T (p.Gly399Trp) SNV
Germline		 Chr12:47987637 Pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV005885836
NM_001844.5(COL2A1):c.2708G>A (p.Gly903Asp) SNV
Germline		 Chr12:47979536 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV005886090
NM_001844.5(COL2A1):c.1789G>C (p.Gly597Arg) SNV
Germline		 Chr12:47985039 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV005882689
NM_001844.5(COL2A1):c.4007G>A (p.Trp1336Ter) SNV
Germline		 Chr12:47974742 Pathogenic/Likely pathogenic See cases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006249131RCV006475331
NM_001844.5(COL2A1):c.2735G>A (p.Gly912Asp) SNV
Germline		 Chr12:47978757 Pathogenic Type 2 collagenopathy Criteria Provided
Single Submitter

1 SubmittersRCV006257627
NM_001844.5(COL2A1):c.2716G>T (p.Gly906Ter) SNV
Germline		 Chr12:47979528 Pathogenic Stickler syndrome, type I, nonsyndromic ocular Criteria Provided
Single Submitter

1 SubmittersRCV006257628
NM_001844.5(COL2A1):c.2407A>T (p.Lys803Ter) SNV
Germline		 Chr12:47981778 Pathogenic Type 2 collagenopathy Criteria Provided
Single Submitter

1 SubmittersRCV006257630
NM_001844.5(COL2A1):c.1501G>T (p.Gly501Trp) SNV
Germline		 Chr12:47986362 Pathogenic Type 2 collagenopathy Criteria Provided
Single Submitter

1 SubmittersRCV006257631
NM_001844.5(COL2A1):c.502G>T (p.Gly168Cys) SNV
Germline		 Chr12:47997635 Likely pathogenic Type 2 collagenopathy Criteria Provided
Single Submitter

1 SubmittersRCV006257633
NM_001844.5(COL2A1):c.2240G>A (p.Gly747Asp) SNV
Germline		 Chr12:47982563 Likely pathogenic KBG syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006262295
NM_001844.5(COL2A1):c.2301+1G>A SNV
Germline		 Chr12:47982501 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006275687
NM_001844.5(COL2A1):c.691G>C (p.Gly231Arg) SNV
Germline		 Chr12:47995727 Pathogenic Stickler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006278367
NM_001844.5(COL2A1):c.2193+1G>C SNV
Germline		 Chr12:47982847 Likely pathogenic Stickler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006437325
NM_001844.5(COL2A1):c.4010G>A (p.Trp1337Ter) SNV
Germline		 Chr12:47974739 Pathogenic Stickler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006439114
NM_001844.5(COL2A1):c.1997G>A (p.Gly666Glu) SNV
Germline		 Chr12:47983437 Pathogenic Kniest dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV006449310
NM_001844.5(COL2A1):c.373C>T (p.Gln125Ter) SNV
Germline		 Chr12:47998034 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006494967
NM_001844.5(COL2A1):c.3253C>T (p.Gln1085Ter) SNV
Germline		 Chr12:47977340 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006501949
NM_001844.5(COL2A1):c.1141G>C (p.Gly381Arg) SNV
Germline		 Chr12:47987691 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006505210
NM_001844.5(COL2A1):c.3545G>A (p.Gly1182Asp) SNV
Germline		 Chr12:47976015 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006505200
NM_001844.5(COL2A1):c.3283G>A (p.Gly1095Ser) SNV
Germline		 Chr12:47977146 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006505202
NM_001844.5(COL2A1):c.2761G>C (p.Gly921Arg) SNV
Germline		 Chr12:47978731 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006505204
NM_001844.5(COL2A1):c.1799G>A (p.Gly600Asp) SNV
Germline		 Chr12:47985029 Pathogenic/Likely pathogenic Condition: not provided
COL2A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006505206RCV006706596
NM_001844.5(COL2A1):c.1221+1G>T SNV
Germline		 Chr12:47987610 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006500795
NM_001844.5(COL2A1):c.3262A>T (p.Arg1088Ter) SNV
Germline		 Chr12:47977331 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006507067
NM_001844.5(COL2A1):c.1366-2A>C SNV
Germline		 Chr12:47986890 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006524567
NM_001844.5(COL2A1):c.4051G>T (p.Glu1351Ter) SNV
Germline		 Chr12:47974698 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006520438
NM_001844.5(COL2A1):c.532-1G>A SNV
Germline		 Chr12:47996626 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006520813
NM_001844.5(COL2A1):c.1888-2A>C SNV
Germline		 Chr12:47984142 Pathogenic Condition: not provided
Stickler syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006525190RCV006737205
NM_001844.5(COL2A1):c.3952G>T (p.Glu1318Ter) SNV
Germline		 Chr12:47974797 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006525626
NM_001844.5(COL2A1):c.3893A>G (p.Tyr1298Cys) SNV
Germline		 Chr12:47974856 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537168
NM_001844.5(COL2A1):c.3625G>T (p.Gly1209Cys) SNV
Germline		 Chr12:47975578 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537172
NM_001844.5(COL2A1):c.3239G>A (p.Gly1080Asp) SNV
Germline		 Chr12:47977354 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537175
NM_001844.5(COL2A1):c.2887G>T (p.Gly963Cys) SNV
Germline		 Chr12:47978605 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537179
NM_001844.5(COL2A1):c.2581G>T (p.Gly861Cys) SNV
Germline		 Chr12:47980598 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537183
NM_001844.5(COL2A1):c.2555G>A (p.Gly852Glu) SNV
Germline		 Chr12:47980624 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537184
NM_001844.5(COL2A1):c.2024G>T (p.Gly675Val) SNV
Germline		 Chr12:47983410 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537186
NM_001844.5(COL2A1):c.1610G>T (p.Gly537Val) SNV
Germline		 Chr12:47985798 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537192
NM_001844.5(COL2A1):c.1493G>A (p.Gly498Asp) SNV
Germline		 Chr12:47986370 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537193
NM_001844.5(COL2A1):c.998G>T (p.Gly333Val) SNV
Germline		 Chr12:47992903 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537198
NM_001844.5(COL2A1):c.691G>A (p.Gly231Ser) SNV
Germline		 Chr12:47995727 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537204
NM_001844.5(COL2A1):c.674G>A (p.Gly225Asp) SNV
Germline		 Chr12:47995744 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006537205
NM_001844.5(COL2A1):c.737G>A (p.Gly246Asp) SNV
Germline		 Chr12:47995280 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006516852
NM_001844.5(COL2A1):c.3109G>T (p.Glu1037Ter) SNV
Germline		 Chr12:47978012 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV006553798
NM_001844.5(COL2A1):c.664G>A (p.Gly222Arg) SNV
Germline		 Chr12:47995754 Likely pathogenic Autosomal dominant COL2A1-related disorders Criteria Provided
Single Submitter

1 SubmittersRCV006554932
NM_001844.5(COL2A1):c.944G>C (p.Gly315Ala) SNV
Germline		 Chr12:47993483 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006579435
NM_001844.5(COL2A1):c.3166-1G>C SNV
Unknown		 Chr12:47977428 Pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV006597632
NM_001844.5(COL2A1):c.3635G>T (p.Gly1212Val) SNV
Germline		 Chr12:47975568 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006597646
NM_001844.5(COL2A1):c.2464-2A>T SNV
Germline		 Chr12:47980970 Likely pathogenic 16 conditions Criteria Provided
Single Submitter

1 SubmittersRCV006605979
NM_001844.5(COL2A1):c.2957C>T (p.Pro986Leu) SNV
Germline		 Chr12:47978337 Likely pathogenic 16 conditions Criteria Provided
Single Submitter

1 SubmittersRCV006606050
NM_001844.5(COL2A1):c.1196G>C (p.Gly399Ala) SNV
Germline		 Chr12:47987636 Likely pathogenic Kniest dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV006645590
NM_001844.5(COL2A1):c.1016G>T (p.Gly339Val) SNV
Germline		 Chr12:47992885 Likely pathogenic Skeletal dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV006649750
NM_001844.5(COL2A1):c.899G>T (p.Gly300Val) SNV
Germline		 Chr12:47993834 Likely pathogenic Stickler syndrome type 1 Criteria Provided
Single Submitter

1 SubmittersRCV006647653
NM_001844.5(COL2A1):c.718G>T (p.Gly240Cys) SNV
Germline		 Chr12:47995299 Likely pathogenic Stickler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006647725
NM_001844.5(COL2A1):c.926G>T (p.Gly309Val) SNV
Germline		 Chr12:47993501 Pathogenic Paediatric disorders Criteria Provided
Single Submitter

1 SubmittersRCV006653076
NM_001844.5(COL2A1):c.3436-2A>T SNV
Germline		 Chr12:47976569 Likely pathogenic Inborn genetic diseases Criteria Provided
Single Submitter

1 SubmittersRCV006679040
NM_001844.5(COL2A1):c.3111+1G>A SNV
Germline		 Chr12:47978009 Likely pathogenic Stickler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006692233
NM_001844.5(COL2A1):c.2663G>A (p.Gly888Asp) SNV
Germline		 Chr12:47980025 Likely pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV006694174
NM_001844.5(COL2A1):c.2006G>A (p.Gly669Asp) SNV
Germline		 Chr12:47983428 Likely pathogenic Autosomal dominant COL2A1-related disorders Criteria Provided
Single Submitter

1 SubmittersRCV006695903
NM_001844.5(COL2A1):c.1835G>T (p.Gly612Val) SNV
Germline		 Chr12:47984598 Pathogenic Multiple epiphyseal dysplasia, Beighton type Criteria Provided
Single Submitter

1 SubmittersRCV006695904
NM_001844.5(COL2A1):c.1068+1G>T SNV
Germline		 Chr12:47989760 Likely pathogenic Autosomal dominant COL2A1-related disorders Criteria Provided
Single Submitter

1 SubmittersRCV006695905
NM_001844.5(COL2A1):c.1303G>A (p.Gly435Arg) SNV
Unknown		 Chr12:47987140 Pathogenic Achondrogenesis type II Criteria Provided
Single Submitter

1 SubmittersRCV006697053
NM_001844.5(COL2A1):c.3527G>T (p.Gly1176Val) SNV
Germline		 Chr12:47976033 Pathogenic Spondyloepiphyseal dysplasia, Stanescu type Criteria Provided
Single Submitter

1 SubmittersRCV006697054
NM_001844.5(COL2A1):c.709-1G>T SNV
Germline		 Chr12:47995309 Pathogenic Spondyloperipheral dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV006697055
NM_001844.5(COL2A1):c.3003+1G>A SNV
Germline		 Chr12:47978290 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006698983
NM_001844.5(COL2A1):c.1205G>A (p.Gly402Glu) SNV
Germline		 Chr12:47987627 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV006703659
NM_001844.5(COL2A1):c.1160G>A (p.Gly387Asp) SNV
Germline		 Chr12:47987672 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV006703771
NM_001844.5(COL2A1):c.1357G>T (p.Gly453Cys) SNV
Germline		 Chr12:47987086 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV006706038
NM_001844.5(COL2A1):c.1834-1G>C SNV
Germline		 Chr12:47984600 Likely pathogenic Stickler syndrome, type I, nonsyndromic ocular Criteria Provided
Single Submitter

1 SubmittersRCV006707178
NM_001844.5(COL2A1):c.1430G>T (p.Gly477Val) SNV
Germline		 Chr12:47986433 Likely pathogenic COL2A1-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV006704270
NM_001844.5(COL2A1):c.1069-1G>C SNV
Germline		 Chr12:47989282 Likely pathogenic Spondyloepiphyseal dysplasia Criteria Provided
Single Submitter

1 SubmittersRCV006709002
NM_001844.5(COL2A1):c.2276G>A (p.Gly759Asp) SNV
Germline		 Chr12:47982527 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006732908
NM_001844.5(COL2A1):c.1558C>T (p.Gln520Ter) SNV
Germline		 Chr12:47985935 Pathogenic Stickler syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006738504